A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4037826



Internal ID18953279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:87560395..87564099hg38UCSC Ensembl
Outerchr9:87559614..87568452hg38UCSC Ensembl
Innerchr9:90175310..90179014hg19UCSC Ensembl
Outerchr9:90174529..90183367hg19UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg388839
hg198839
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161882
Supporting Variants
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)nssv4037826
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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