A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161876



Internal ID19304481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:73453096..73464247hg38UCSC Ensembl
Outerchr9:73450588..73473236hg38UCSC Ensembl
Innerchr9:76068012..76079163hg19UCSC Ensembl
Outerchr9:76065504..76088152hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg3822649
hg1922649
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4037808
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)nsv1161876
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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