A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516988



Internal ID15444281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:17580930..17588935hg38UCSC Ensembl
Innerchr8:17438439..17446444hg19UCSC Ensembl
Innerchr8:17482709..17490705hg18UCSC Ensembl
Innerchr8:17482709..17490705hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg388006
hg198006
hg187997
hg177997
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv675036, nssv653558
Samples
Known GenesPDGFRL
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516988
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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