A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518606



Internal ID15099213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:24435986..24505297hg38UCSC Ensembl
Innerchr8:24293499..24362810hg19UCSC Ensembl
Innerchr8:24349444..24418700hg18UCSC Ensembl
Innerchr8:24349444..24418700hg17UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3869312
hg1969312
hg1869257
hg1769257
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv452n21
Supporting Variantsnssv696052
Samples
Known GenesADAM7
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518606
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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