Variant Details

Variant: nsv442858

Internal ID

15501577

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:1696479..1741164	hg38	UCSC Ensembl
Inner	chr1:1627918..1672603	hg19	UCSC Ensembl
Inner	chr1:1617778..1662463	hg18	UCSC Ensembl
Inner	chr1:1660080..1704765	hg17	UCSC Ensembl

Cytoband

1p36.33

Allele length

Assembly	Allele length
hg38	44686
hg19	44686
hg18	44686
hg17	44686

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1617503, nssv1617514, nssv1617436, nssv1617591, nssv1617480, nssv1617536, nssv1617392, nssv1617425, nssv1617469, nssv1617447, nssv1617168, nssv1617614, nssv1617602, nssv1617279, nssv1617491, nssv1616835, nssv1616946, nssv1617358, nssv1617525, nssv1617369, nssv1617380, nssv1617569, nssv1617403, nssv1617636, nssv1617547, nssv1617458, nssv1617558, nssv1617580, nssv1617625, nssv1617414, nssv1617057

Samples

NA19204, NA19145, NA12751, NA18504, NA12248, NA12750, NA18940, NA10835, NA18635, NA18582, NA12762, NA19207, NA10839, NA19200, NA12003, NA19205, NA18976, NA19208, NA18537, NA12144, NA18523, NA18632, NA19144, NA12740, NA18994, NA18854, NA18552, NA18852, NA07056, NA12006, NA18620

Known Genes

CDK11A, CDK11B, MMP23A, SLC35E2

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)

nsv442858

Frequency

Sample Size	270
Observed Gain	6
Observed Loss	25
Observed Complex	0
Frequency	n/a