A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3563001



Internal ID18861282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:73757795..74187958hg38UCSC Ensembl
Innerchr18:71425030..71855193hg19UCSC Ensembl
Innerchr18:69576010..70006173hg18UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38430164
hg19430164
hg18430164
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1060111
Supporting Variants
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)nssv3563001
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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