A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557390



Internal ID16344799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9405722..9534605hg38UCSC Ensembl
Innerchr12:9558318..9687201hg19UCSC Ensembl
Innerchr12:9449585..9578468hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38128884
hg19128884
hg18128884
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2344n54
Supporting Variantsnssv787513
Samples
Known GenesDDX12P
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557390
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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