A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518114



Internal ID15098721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:49789853..49792888hg38UCSC Ensembl
Innerchr19:50293110..50296145hg19UCSC Ensembl
Innerchr19:54984922..54987957hg18UCSC Ensembl
Innerchr19:54984922..54987957hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg383036
hg193036
hg183036
hg173036
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695528
Samples
Known GenesAP2A1, MIR6799
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518114
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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