A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517259



Internal ID15444552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:78631277..78633453hg38UCSC Ensembl
Innerchr13:79205412..79207588hg19UCSC Ensembl
Innerchr13:78103413..78105589hg18UCSC Ensembl
Innerchr13:78103413..78105589hg17UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg382177
hg192177
hg182177
hg172177
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv684542, nssv673293, nssv693349, nssv654149, nssv658471
Samples
Known GenesRNF219
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517259
Frequency
Sample Size2026
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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