A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556944



Internal ID15997667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1199387..1459931hg38UCSC Ensembl
Innerchr12:1308553..1569097hg19UCSC Ensembl
Innerchr12:1178814..1439358hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38260545
hg19260545
hg18260545
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv786225
Samples
Known GenesERC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556944
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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