Variant Details

Variant: nssv1620056

Internal ID

15125805

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:248585893..248633912	hg38	UCSC Ensembl
Inner	chr1:248749194..248797213	hg19	UCSC Ensembl
Inner	chr1:246815817..246863836	hg18	UCSC Ensembl
Inner	chr1:245075235..245123254	hg17	UCSC Ensembl

Cytoband

1q44

Allele length

Assembly	Allele length
hg38	48020
hg19	48020
hg18	48020
hg17	48020

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

nsv442637

Supporting Variants

Samples

NA18517

Known Genes

OR2T10, OR2T11

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)

nssv1620056

Frequency

Sample Size	270
Observed Gain	0
Observed Loss	1
Observed Complex	0
Frequency	n/a