Variant Details

Variant: nsv442794

Internal ID

15501513

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr22:25268018..25522745	hg38	UCSC Ensembl
Inner	chr22:25663985..25918712	hg19	UCSC Ensembl
Inner	chr22:23993985..24248712	hg18	UCSC Ensembl
Inner	chr22:23988539..24243266	hg17	UCSC Ensembl

Cytoband

22q11.23

Allele length

Assembly	Allele length
hg38	254728
hg19	254728
hg18	254728
hg17	254728

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1654766, nssv1654765, nssv1654785, nssv1654779, nssv1654783, nssv1654788, nssv1654770, nssv1654776, nssv1654786, nssv1654780, nssv1654777, nssv1654792, nssv1654767, nssv1654768, nssv1654778, nssv1654789, nssv1654782, nssv1654784, nssv1654775, nssv1654772, nssv1654790, nssv1654773, nssv1654769, nssv1654787, nssv1654771, nssv1654781, nssv1654791, nssv1654774

Samples

NA19141, NA11830, NA11995, NA18507, NA10854, NA18558, NA19138, NA12761, NA18973, NA12752, NA18956, NA11839, NA19221, NA19142, NA18532, NA19099, NA12707, NA06985, NA10856, NA18632, NA18542, NA06991, NA12716, NA10861, NA19143, NA19223, NA19139, NA07000

Known Genes

CRYBB2P1, IGLL3P, LRP5L, MIR6817

Method

SNP array

Analysis

We used two computational approaches to identify CNVs: the hidden Markov model Birdseye, and an approach based on correlation between nearby probes across a population sample. To maximize the quality of reported findings, we ran duplicate experiments in independent labs, and report the CNVs that were observed in both experiments, in the same samples and at essentially identical genomic locations.

Platform

[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array

Comments

Reference

McCarroll_et_al_2008

Pubmed ID

18776908

Accession Number(s)

nsv442794

Frequency

Sample Size	270
Observed Gain	18
Observed Loss	10
Observed Complex	0
Frequency	n/a