A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4037822



Internal ID18953275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:83899540..83902628hg38UCSC Ensembl
Outerchr9:83898356..83903363hg38UCSC Ensembl
Innerchr9:86514455..86517543hg19UCSC Ensembl
Outerchr9:86513271..86518278hg19UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg385008
hg195008
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161879
Supporting Variants
Samples
Known GenesKIF27
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)nssv4037822
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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