A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558188



Internal ID16345597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32378286..32434531hg38UCSC Ensembl
Innerchr12:32531220..32587465hg19UCSC Ensembl
Innerchr12:32422487..32478732hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3856246
hg1956246
hg1856246
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1176300
SamplesHGDP00017
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558188
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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