A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523590



Internal ID15104197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:2103963..2109158hg38UCSC Ensembl
Innerchr19:2103962..2109157hg19UCSC Ensembl
Innerchr19:2054962..2060157hg18UCSC Ensembl
Innerchr19:2054962..2060157hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg385196
hg195196
hg185196
hg175196
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699380
Samples
Known GenesAP3D1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523590
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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