A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4026560



Internal ID19290423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:44554590..44564520hg38UCSC Ensembl
Outerchr2:44551324..44565205hg38UCSC Ensembl
Innerchr2:44781729..44791659hg19UCSC Ensembl
Outerchr2:44778463..44792344hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3813882
hg1913882
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160787
Supporting Variants
Samples
Known GenesCAMKMT
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)nssv4026560
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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