A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560491



Internal ID16001214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:122941028..122959875hg38UCSC Ensembl
Innerchr12:123425575..123444422hg19UCSC Ensembl
Innerchr12:121991528..122010375hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3818848
hg1918848
hg1818848
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv803649
Samples
Known GenesABCB9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560491
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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