A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576942



Internal ID16364351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:53603119..53611368hg38UCSC Ensembl
Innerchr18:51129489..51137738hg19UCSC Ensembl
Innerchr18:49383487..49391736hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg388250
hg198250
hg188250
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5939n54
Supporting Variantsnssv883315, nssv883304, nssv883313, nssv883309, nssv883306, nssv883312, nssv883311, nssv883305, nssv883307, nssv883310, nssv883314, nssv883308
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576942
Frequency
Sample Size17421
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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