Variant Details

Variant: nsv442484

Internal ID

15501203

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr20:40016116..40018365	hg38	UCSC Ensembl
Inner	chr20:38644758..38647007	hg19	UCSC Ensembl
Inner	chr20:38078172..38080421	hg18	UCSC Ensembl
Inner	chr20:38078172..38080421	hg17	UCSC Ensembl

Cytoband

20q12

Allele length

Assembly	Allele length
hg38	2250
hg19	2250
hg18	2250
hg17	2250

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1660548, nssv1660547

Samples

NA19141, NA18501

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)

nsv442484

Frequency

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