A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517504



Internal ID6012971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:67539967..67540171hg19UCSC Ensembl
Innerchr5:67575723..67575927hg18UCSC Ensembl
Innerchr5:67575723..67575927hg17UCSC Ensembl
Cytoband5q13.1
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 Variantsnssv672089, nssv652209, nssv658195
Samples
Known GenesPIK3R1
Method
AnalysisMerged-level CNV regions
PlatformIllumina HumanHap550 Genotyping BeadChip v3
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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