A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516483



Internal ID15097090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:117233820..117285836hg38UCSC Ensembl
Innerchr11:117104536..117156552hg19UCSC Ensembl
Innerchr11:116609746..116661762hg18UCSC Ensembl
Innerchr11:116609746..116661762hg17UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3852017
hg1952017
hg1852017
hg1752017
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv674077, nssv663694, nssv668718, nssv668659, nssv688324, nssv661824, nssv683181
Samples
Known GenesBACE1, RNF214
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516483
Frequency
Sample Size2026
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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