A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999698



Internal ID19159234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:52493838..52624423hg38UCSC Ensembl
Innerchr2:52720976..52851561hg19UCSC Ensembl
Innerchr2:52574480..52705065hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38130586
hg19130586
hg18130586
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3818n100
Supporting Variantsnssv3726033
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)nsv999698
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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