A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576943



Internal ID16364352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:53603119..53612586hg38UCSC Ensembl
Innerchr18:51129489..51138956hg19UCSC Ensembl
Innerchr18:49383487..49392954hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg389468
hg199468
hg189468
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5939n54
Supporting Variantsnssv883316
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576943
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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