A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161881



Internal ID19303473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:87560395..87563438hg38UCSC Ensembl
Outerchr9:87559614..87563604hg38UCSC Ensembl
Innerchr9:90175310..90178353hg19UCSC Ensembl
Outerchr9:90174529..90178519hg19UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg383991
hg193991
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4037824
Samples
Known GenesDAPK1
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)nsv1161881
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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