A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4038954



Internal ID18954407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:65279296..65294096hg38UCSC Ensembl
Outerchr16:65275059..65303349hg38UCSC Ensembl
Innerchr16:65313199..65327999hg19UCSC Ensembl
Outerchr16:65308962..65337252hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3828291
hg1928291
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160426
Supporting Variants
Samples
Known GenesLINC00922
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)nssv4038954
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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