A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696298



Internal ID15432950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:59379712..59380223hg38UCSC Ensembl
Innerchr5:58675538..58676049hg19UCSC Ensembl
Innerchr5:58711295..58711806hg18UCSC Ensembl
Innerchr5:58711295..58711806hg17UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38512
hg19512
hg18512
hg17512
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518845
Supporting Variants
Samples
Known GenesPDE4D
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696298
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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