Variant Details

Variant: nsv468661

Internal ID

15528726

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:240863758..241006850	hg38	UCSC Ensembl
Inner	chr1:241027058..241170150	hg19	UCSC Ensembl
Inner	chr1:239093681..239236773	hg18	UCSC Ensembl
Inner	chr1:237353099..237496191	hg17	UCSC Ensembl

Cytoband

1q43

Allele length

Assembly	Allele length
hg38	143093
hg19	143093
hg18	143093
hg17	143093

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv543752

Samples

HGDP00950

Known Genes

RGS7

Method

SNP array

Analysis

An HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.

Platform

Not reported

Comments

Reference

Itsara_et_al_2009

Pubmed ID

19166990

Accession Number(s)

nsv468661

Frequency

Sample Size	1557
Observed Gain	1
Observed Loss	0
Observed Complex	0
Frequency	n/a