A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161940



Internal ID18956122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:43094322..43096181hg38UCSC Ensembl
Outerchr10:43093954..43096651hg38UCSC Ensembl
Innerchr10:43589770..43591629hg19UCSC Ensembl
Outerchr10:43589402..43592099hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg382698
hg192698
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4038120
Samples
Known GenesRET
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)nsv1161940
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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