A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517504



Internal ID8411779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:68244139..68244343hg38UCSC Ensembl
Innerchr5:67539967..67540171hg19UCSC Ensembl
Innerchr5:67575723..67575927hg18UCSC Ensembl
Innerchr5:67575723..67575927hg17UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg38205
hg19205
hg18205
hg17205
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv672089, nssv652209, nssv658195
Samples
Known GenesPIK3R1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517504
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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