A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520575



Internal ID15447868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:76701130..76730347hg38UCSC Ensembl
Innerchr1:77166815..77196032hg19UCSC Ensembl
Innerchr1:76939403..76968620hg18UCSC Ensembl
Innerchr1:76878836..76908053hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3829218
hg1929218
hg1829218
hg1729218
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv672724, nssv681294, nssv690063, nssv686480, nssv679416, nssv683796
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520575
Frequency
Sample Size2026
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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