A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062120



Internal ID18804651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:67146056..67549089hg38UCSC Ensembl
Innerchr18:64813293..65216326hg19UCSC Ensembl
Innerchr18:62964273..63367306hg18UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38403034
hg19403034
hg18403034
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3383n100
Supporting Variantsnssv3723121
Samples
Known GenesDSEL, LOC643542
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062120
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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