A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516197



Internal ID15443490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:43158419..43214022hg38UCSC Ensembl
Innerchr13:43732555..43788158hg19UCSC Ensembl
Innerchr13:42630555..42686158hg18UCSC Ensembl
Innerchr13:42630555..42686158hg17UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3855604
hg1955604
hg1855604
hg1755604
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv671908, nssv666732, nssv688831, nssv687241
Samples
Known GenesENOX1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516197
Frequency
Sample Size2026
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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