A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161966



Internal ID19302574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:57812248..58010307hg38UCSC Ensembl
Outerchr10:57809966..58011708hg38UCSC Ensembl
Innerchr10:59572008..59770067hg19UCSC Ensembl
Outerchr10:59569726..59771468hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38201743
hg19201743
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv34n111
Supporting Variantsnssv4038192
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)nsv1161966
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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