A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4036774



Internal ID19288873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:25637120..25739144hg38UCSC Ensembl
Outerchr8:25636074..25740354hg38UCSC Ensembl
Innerchr8:25494636..25596660hg19UCSC Ensembl
Outerchr8:25493590..25597870hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38104281
hg19104281
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161745
Supporting Variants
Samples
Known Genes
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)nssv4036774
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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