A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557393



Internal ID16344802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9405722..9573873hg38UCSC Ensembl
Innerchr12:9558318..9726469hg19UCSC Ensembl
Innerchr12:9449585..9617736hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38168152
hg19168152
hg18168152
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2344n54
Supporting Variantsnssv787527, nssv787528
Samples
Known GenesDDX12P
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557393
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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