A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699865



Internal ID15436517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:131262625..131324702hg38UCSC Ensembl
Innerchr5:130598318..130660395hg19UCSC Ensembl
Innerchr5:130626217..130688294hg18UCSC Ensembl
Innerchr5:130626217..130688294hg17UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg3862078
hg1962078
hg1862078
hg1762078
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524005
Supporting Variants
Samples
Known GenesCDC42SE2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699865
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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