A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160909



Internal ID19302566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240686640..240766810hg38UCSC Ensembl
Outerchr2:240671904..240776486hg38UCSC Ensembl
Innerchr2:241626057..241706227hg19UCSC Ensembl
Outerchr2:241611321..241715903hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38104583
hg19104583
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4027554
Samples
Known GenesAQP12A, AQP12B, KIF1A
MethodSNP array
Analysis1) We applied common software Birdsuite to detect genome-wide CNVs; 2) we used our algorithm WinXPCNVer which is based on probe intensity to identify Tibetan specific CNV; 3) we further genotyped the discovered Tibetan specific CNV by K-means and manual observation.
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceLou_et_al_2015
Pubmed ID26073780
Accession Number(s)nsv1160909
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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