A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv685873



Internal ID15422525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47918983..48020962hg38UCSC Ensembl
Innerchr2:48146122..48248101hg19UCSC Ensembl
Innerchr2:47999626..48101605hg18UCSC Ensembl
Innerchr2:48057773..48159752hg17UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38101980
hg19101980
hg18101980
hg17101980
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519761
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv685873
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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