A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518533



Internal ID6018549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:52711014..52711138hg19UCSC Ensembl
Innerchr19:57402826..57402950hg18UCSC Ensembl
Innerchr19:57402826..57402950hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv695976
Samples
Known GenesPPP2R1A
Method
AnalysisCNV regions located outside of or spanning over several merged-level regions determined by the submitter
PlatformIllumina HumanHap550 Genotyping BeadChip v3
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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