A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558592



Internal ID16346001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:39552552..39648418hg38UCSC Ensembl
Innerchr12:39946354..40042220hg19UCSC Ensembl
Innerchr12:38232621..38328487hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3895867
hg1995867
hg1895867
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2575n54
Supporting Variantsnssv1175468
SamplesHGDP00994
Known GenesABCD2, C12orf40
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558592
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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