A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161341



Internal ID19303808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:19816626..19819677hg38UCSC Ensembl
Outerchr6:19810194..19821095hg38UCSC Ensembl
Innerchr6:19816857..19819908hg19UCSC Ensembl
Outerchr6:19810425..19821326hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3810902
hg1910902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4034222, nssv4034223
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)nsv1161341
Frequency
Sample Size369
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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