A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4038081



Internal ID18953534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:1716621..1724591hg38UCSC Ensembl
Outerchr10:1714813..1726586hg38UCSC Ensembl
Innerchr10:1758815..1766785hg19UCSC Ensembl
Outerchr10:1757007..1768780hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg3811774
hg1911774
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161923
Supporting Variants
Samples
Known GenesADARB2
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)nssv4038081
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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