A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161369



Internal ID18956895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31391874..31483699hg38UCSC Ensembl
Outerchr6:31385912..31488057hg38UCSC Ensembl
Innerchr6:31359651..31451476hg19UCSC Ensembl
Outerchr6:31353689..31455834hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38102146
hg19102146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4034487, nssv4034486, nssv4034490, nssv4034488, nssv4034489
Samples
Known GenesHCG26, HCP5, MICA
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)nsv1161369
Frequency
Sample Size369
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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