A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517847



Internal ID15098454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:18803855..19442203hg38UCSC Ensembl
Innerchr3:18845347..19483695hg19UCSC Ensembl
Innerchr3:18820351..19458699hg18UCSC Ensembl
Innerchr3:18820351..19458699hg17UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38638349
hg19638349
hg18638349
hg17638349
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695252
Samples
Known GenesKCNH8, MIR4791
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517847
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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