A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160612



Internal ID19304100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:35094823..35224240hg38UCSC Ensembl
Outerchr2:35087840..35224758hg38UCSC Ensembl
Innerchr2:35319889..35449306hg19UCSC Ensembl
Outerchr2:35312906..35449824hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38136919
hg19136919
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4026425
Samples
Known Genes
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)nsv1160612
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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