A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558967



Internal ID16346376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52873781..52874432hg38UCSC Ensembl
Innerchr12:53267565..53268216hg19UCSC Ensembl
Innerchr12:51553832..51554483hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38652
hg19652
hg18652
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv796172
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558967
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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