A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3581633



Internal ID18533228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47278977..47546821hg38UCSC Ensembl
Innerchr2:47506116..47773960hg19UCSC Ensembl
Innerchr2:47359620..47627464hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38267845
hg19267845
hg18267845
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv999576
Supporting Variants
Samples
Known GenesEPCAM, KCNK12, MIR559, MSH2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3581633
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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