A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039488



Internal ID18782019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1377470..1458109hg38UCSC Ensembl
Innerchr12:1486636..1567275hg19UCSC Ensembl
Innerchr12:1356897..1437536hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3880640
hg1980640
hg1880640
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3505976
Samples
Known GenesERC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1039488
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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