A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521148



Internal ID15448441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:68555027..68558116hg38UCSC Ensembl
Innerchr13:69129159..69132248hg19UCSC Ensembl
Innerchr13:68027160..68030249hg18UCSC Ensembl
Innerchr13:68027160..68030249hg17UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg383090
hg193090
hg183090
hg173090
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv690235, nssv683072, nssv687492
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521148
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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