A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160495



Internal ID19304438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:55153229..55257739hg38UCSC Ensembl
Outerchr17:55149719..55259533hg38UCSC Ensembl
Innerchr17:53230590..53335100hg19UCSC Ensembl
Outerchr17:53227080..53336894hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38109815
hg19109815
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4039439
Samples
Known GenesSTXBP4
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)nsv1160495
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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