A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576633



Internal ID16017356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:31392400..31458160hg38UCSC Ensembl
Innerchr18:28972363..29038123hg19UCSC Ensembl
Innerchr18:27226361..27292121hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3865761
hg1965761
hg1865761
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5882n54
Supporting Variantsnssv878942
Samples
Known GenesDSG3, DSG4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576633
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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