A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063130



Internal ID18805661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:73758387..74187958hg38UCSC Ensembl
Innerchr18:71425622..71855193hg19UCSC Ensembl
Innerchr18:69576602..70006173hg18UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38429572
hg19429572
hg18429572
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3400n100
Supporting Variantsnssv3563002
Samples
Known GenesFBXO15, TIMM21
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063130
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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