A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005682



Internal ID18748213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32543594..32690290hg38UCSC Ensembl
Innerchr2:32768661..32915357hg19UCSC Ensembl
Innerchr2:32622165..32768861hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38146697
hg19146697
hg18146697
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3750n100
Supporting Variantsnssv3579176
Samples
Known GenesBIRC6, MIR4765, TTC27
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005682
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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