Variant Details

Variant: nsv441775

Internal ID

15500494

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:112704822..112721310	hg38	UCSC Ensembl
Inner	chr2:113462399..113478887	hg19	UCSC Ensembl
Inner	chr2:113178870..113195358	hg18	UCSC Ensembl
Inner	chr2:113178630..113195118	hg17	UCSC Ensembl

Cytoband

2q13

Allele length

Assembly	Allele length
hg38	16489
hg19	16489
hg18	16489
hg17	16489

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1657061, nssv1657062

Samples

NA18960, NA18964

Known Genes

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)

nsv441775

Frequency

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