A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997314



Internal ID19156852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:52493838..52554392hg38UCSC Ensembl
Innerchr2:52720976..52781530hg19UCSC Ensembl
Innerchr2:52574480..52635034hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3860555
hg1960555
hg1860555
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3581714
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997314
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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