Description:
CHROMOSOME DELETION
COPY NUMBER VARIATION (CNV) REFERENCE PANEL
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities
dbGaP |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,dup(X)(q28),del(Y)(q11.2).ish del(Y)(q11.2)(DXYS129/DXYS153+,SRY+,DYZ3+,DYZ1+,Z43206+).arr Xq28(151659961-154582680)x2,Yq11.223q11.23(22769319-27097245)x0
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Seizures; profound mental retardation |
| 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 |
| |
| 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 |
|
|