A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv787514



Internal ID16081470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9405722..9561734hg38UCSC Ensembl
Innerchr12:9558318..9714330hg19UCSC Ensembl
Innerchr12:9449585..9605597hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38156013
hg19156013
hg18156013
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557391
Supporting Variants
Samples
Known GenesDDX12P
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv787514
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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