A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060592



Internal ID18803123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:31385807..31462369hg38UCSC Ensembl
Innerchr18:28965770..29042332hg19UCSC Ensembl
Innerchr18:27219768..27296330hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3876563
hg1976563
hg1876563
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3328n100
Supporting Variantsnssv3564156
Samples
Known GenesDSG3, DSG4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060592
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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