A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523519



Internal ID6021481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:99895965..99910322hg19UCSC Ensembl
Innerchr13:98693966..98708323hg18UCSC Ensembl
Innerchr13:98693966..98708323hg17UCSC Ensembl
Cytoband13q32.3
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 Variantsnssv699292
Samples
Known GenesGPR18, MIR548AN, UBAC2
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)nsv523519
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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