A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4026849



Internal ID19290712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:60261723..60280730hg38UCSC Ensembl
Outerchr2:60259112..60282315hg38UCSC Ensembl
Innerchr2:60488858..60507865hg19UCSC Ensembl
Outerchr2:60486247..60509450hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3823204
hg1923204
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160810
Supporting Variants
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)nssv4026849
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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