A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1149712



Internal ID15508632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:31389081..31476502hg38UCSC Ensembl
Innerchr18:28969044..29056465hg19UCSC Ensembl
Innerchr18:27223042..27310463hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3887422
hg1987422
hg1887422
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv576632
Supporting Variants
Samples1780862557_A
Known GenesDSG3, DSG4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1149712
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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