A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576991



Internal ID16017714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:54718385..54726513hg38UCSC Ensembl
Innerchr18:52385616..52393744hg19UCSC Ensembl
Innerchr18:50536614..50544742hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg388129
hg198129
hg188129
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5948n54
Supporting Variantsnssv883649, nssv883650
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576991
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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