A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695528



Internal ID15085494
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518114
Supporting Variants
Samples
Known GenesAP2A1, MIR6799
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695528
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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