A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527023



Internal ID15107630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:19632437..19632487hg38UCSC Ensembl
Innerchr8:19489948..19489998hg19UCSC Ensembl
Innerchr8:19534228..19534278hg18UCSC Ensembl
Innerchr8:19534228..19534278hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
hg1751
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703398
Samples
Known GenesCSGALNACT1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527023
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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