A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520683



Internal ID15101290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:9807553..9968417hg38UCSC Ensembl
Innerchr19:9918229..10079093hg19UCSC Ensembl
Innerchr19:9779229..9940093hg18UCSC Ensembl
Innerchr19:9779229..9940093hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38160865
hg19160865
hg18160865
hg17160865
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697555
Samples
Known GenesCOL5A3, FBXL12, OLFM2, PIN1, UBL5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520683
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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