A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517054



Internal ID6013037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:23761882..23766935hg19UCSC Ensembl
Innerchr13:22659882..22664935hg18UCSC Ensembl
Innerchr13:22659882..22664935hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv666817, nssv653698, nssv689036, nssv658620
Samples
Known GenesSGCG
Method
AnalysisMerged-level CNV regions
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv517054
Frequency
Sample Size2026
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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