A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559391



Internal ID16346800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:73962048..74111751hg38UCSC Ensembl
Innerchr12:74355828..74505531hg19UCSC Ensembl
Innerchr12:72642095..72791798hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38149704
hg19149704
hg18149704
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv798831
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559391
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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