Variant Details

Variant: nsv441762

Internal ID

15153795

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:75594779..75687246	hg38	UCSC Ensembl
Inner	chr2:75821905..75914372	hg19	UCSC Ensembl
Inner	chr2:75675413..75767880	hg18	UCSC Ensembl
Inner	chr2:75733560..75826027	hg17	UCSC Ensembl

Cytoband

2p12

Allele length

Assembly	Allele length
hg38	92468
hg19	92468
hg18	92468
hg17	92468

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1657013, nssv1657012

Samples

NA18956, NA18555

Known Genes

GCFC2, MRPL19

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)

nsv441762

Frequency

Sample Size	270
Observed Gain	2
Observed Loss	0
Observed Complex	0
Frequency	n/a