A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4029787



Internal ID19293650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119542884..119572253hg38UCSC Ensembl
Outerchr1:119540220..119572662hg38UCSC Ensembl
Innerchr1:120085507..120114876hg19UCSC Ensembl
Outerchr1:120082843..120115285hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3832443
hg1932443
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161489
Supporting Variants
Samples
Known GenesHSD3BP4
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)nssv4029787
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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