A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525243



Internal ID8419518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150117614..150117665hg38UCSC Ensembl
Innerchr5:149497177..149497228hg19UCSC Ensembl
Innerchr5:149477370..149477421hg18UCSC Ensembl
Innerchr5:149477370..149477421hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
hg1752
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701333
Samples
Known GenesPDGFRB
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
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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