A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4026831



Internal ID18944008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:55535319..55582616hg38UCSC Ensembl
Outerchr2:55524659..55588556hg38UCSC Ensembl
Innerchr2:55762455..55809752hg19UCSC Ensembl
Outerchr2:55751795..55815692hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3863898
hg1963898
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160801
Supporting Variants
Samples
Known GenesCCDC104, SMEK2
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)nssv4026831
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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