A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525243



Internal ID6016936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:149497177..149497228hg19UCSC Ensembl
Innerchr5:149477370..149477421hg18UCSC Ensembl
Innerchr5:149477370..149477421hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv701333
Samples
Known GenesPDGFRB
Method
AnalysisCNV regions located outside of or spanning over several merged-level regions determined by the submitter
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv525243
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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