Description:
DUPLICATED CHROMOSOME
COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XX,der(3)dup(3q)inv(p26q22).arr 3p26.3p26.2(35332-5343902)x1,3q22.1q26.1(134207601-163995774)x3,3q26.1(163995830-164108677)x1,3q26.1q29(164109253-199380402)x3
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| Cytogenetics |
Chromosome 3: DELETION Aneuploid Segment (+)3q21>3qter |
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Chromosome 3: DELETION Aneuploid Segment (-)3pter>3p25 |
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Chromosome 3: DELETION Trisomic Segment 3q21>3qter |
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Chromosome 3: DUPLICATION Aneuploid Segment (+)3q21>3qter |
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Chromosome 3: DUPLICATION Aneuploid Segment (-)3pter>3p25 |
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Chromosome 3: DUPLICATION Trisomic Segment 3q21>3qter |
| Remarks |
Multiple congenital anomalies including cleft palate, microcephaly, dislocated left hip, hypertelorism, left hemifacial microsomia, pulmonic stenosis, & nasolacrimal duct stenosis; mental retardation; see GM10394 Fibroblast |
| Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2021 |
| PubMed ID: 35039224 |
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| Andrew M. Gross PhD, Subramanian S. Ajay PhD, Vani Rajan MS, Carolyn Brown CGC, Krista Bluske PhD, Nicole J. Burns MS, Aditi Chawla PhD, Alison J. Coffey PhD, Alka Malhotra PhD, Alicia Scocchia MS CGC, Erin Thorpe MS CGC, Natasa Dzidic MS, Karine Hovanes PhD FACMG, Trilochan Sahoo MD FACMG, Egor Dolzhenko PhD, Bryan Lajoie PhD, Amirah Khouzam MS CGC, Shimul Chowdhury PhD FACMG, John Belmont MD PhD, Eric Roller PhD, Sergii Ivakhno PhD, Stephen Tanner PhD, Julia McEachern PA MHS, Tina Hambuch PhD FACMG, Michael Eberle PhD, R. Tanner Hagelstrom PhD FACMG, David R. Bentley PhD, Denise L. Perry MS CGC & Ryan J. Taft PhD, Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease Genetics in Medicine44:228-238 2018 |
| PubMed ID: 30293986 |
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| Chen D, Zhen H, Qiu Y, Liu P, Zeng P, Xia J, Shi Q, Xie L, Zhu Z, Gao Y, Huang G, Wang J, Yang H, Chen F, Comparison of single cell sequencing data between two whole genome amplification methods on two sequencing platforms Scientific reports8:4963 2017 |
| PubMed ID: 29563514 |
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| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
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