A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558189



Internal ID15998912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32402912..32449145hg38UCSC Ensembl
Innerchr12:32555846..32602079hg19UCSC Ensembl
Innerchr12:32447113..32493346hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3846234
hg1946234
hg1846234
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1176301
SamplesHGDP01200
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558189
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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