A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012764



Internal ID19101981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:8463123..8504302hg38UCSC Ensembl
Innerchr2:8603253..8644432hg19UCSC Ensembl
Innerchr2:8520704..8561883hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3841180
hg1941180
hg1841180
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3712n100
Supporting Variantsnssv3576938
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)nsv1012764
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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