A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526687



Internal ID15107294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6429821..6434003hg38UCSC Ensembl
Innerchr8:6287342..6291524hg19UCSC Ensembl
Innerchr8:6274750..6278932hg18UCSC Ensembl
Innerchr8:6274750..6278932hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg384183
hg194183
hg184183
hg174183
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv444n21
Supporting Variantsnssv703020
Samples
Known GenesMCPH1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526687
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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