A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528374



Internal ID15108981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6873981..7063882hg38UCSC Ensembl
Innerchr8:6731503..6921404hg19UCSC Ensembl
Innerchr8:6718913..6908814hg18UCSC Ensembl
Innerchr8:6718913..6908814hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38189902
hg19189902
hg18189902
hg17189902
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704961
Samples
Known GenesDEFA1, DEFA10P, DEFA11P, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFA8P, DEFA9P, DEFB1, DEFT1P, DEFT1P2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528374
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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