A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517054



Internal ID8411329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:23187743..23192796hg38UCSC Ensembl
Innerchr13:23761882..23766935hg19UCSC Ensembl
Innerchr13:22659882..22664935hg18UCSC Ensembl
Innerchr13:22659882..22664935hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg385054
hg195054
hg185054
hg175054
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv666817, nssv653698, nssv689036, nssv658620
Samples
Known GenesSGCG
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
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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