A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161012



Internal ID19304437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:187869052..187888723hg38UCSC Ensembl
Outerchr3:187863073..187898642hg38UCSC Ensembl
Innerchr3:187586840..187606511hg19UCSC Ensembl
Outerchr3:187580861..187616430hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg3835570
hg1935570
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4028369
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)nsv1161012
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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