A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558591



Internal ID16346000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:39552552..39640897hg38UCSC Ensembl
Innerchr12:39946354..40034699hg19UCSC Ensembl
Innerchr12:38232621..38320966hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3888346
hg1988346
hg1888346
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2575n54
Supporting Variantsnssv1175467
SamplesHGDP01414
Known GenesABCD2, C12orf40
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558591
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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