A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161967



Internal ID19304197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:60646847..60747445hg38UCSC Ensembl
Outerchr10:60643688..60750731hg38UCSC Ensembl
Innerchr10:62406605..62507203hg19UCSC Ensembl
Outerchr10:62403446..62510489hg19UCSC Ensembl
Cytoband10q21.2
Allele length
AssemblyAllele length
hg38107044
hg19107044
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4038193
Samples
Known GenesANK3
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)nsv1161967
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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