A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160194



Internal ID19302815
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4031872
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)nsv1160194
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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