A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576634



Internal ID16017357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:31392400..31469055hg38UCSC Ensembl
Innerchr18:28972363..29049018hg19UCSC Ensembl
Innerchr18:27226361..27303016hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3876656
hg1976656
hg1876656
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5882n54
Supporting Variantsnssv878943
Samples
Known GenesDSG3, DSG4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576634
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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