A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518533



Internal ID8412808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:52207761..52207885hg38UCSC Ensembl
Innerchr19:52711014..52711138hg19UCSC Ensembl
Innerchr19:57402826..57402950hg18UCSC Ensembl
Innerchr19:57402826..57402950hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38125
hg19125
hg18125
hg17125
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695976
Samples
Known GenesPPP2R1A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518533
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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