A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4031872



Internal ID19295735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:62935550..62987055hg38UCSC Ensembl
Outerchr14:62931300..62989179hg38UCSC Ensembl
Innerchr14:63402268..63453773hg19UCSC Ensembl
Outerchr14:63398018..63455897hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3857880
hg1957880
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160194
Supporting Variants
Samples
Known GenesKCNH5
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)nssv4031872
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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