A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525179



Internal ID8419454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:118405080..118554929hg38UCSC Ensembl
Innerchr6:118726243..118876092hg19UCSC Ensembl
Innerchr6:118832936..118982785hg18UCSC Ensembl
Innerchr6:118832936..118982785hg17UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38149850
hg19149850
hg18149850
hg17149850
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701256
Samples
Known GenesBRD7P3, CEP85L, PLN
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525179
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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