A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517420



Internal ID15444713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:45726581..45749938hg38UCSC Ensembl
Innerchr20:44355220..44378577hg19UCSC Ensembl
Innerchr20:43788634..43811984hg18UCSC Ensembl
Innerchr20:43788634..43811984hg17UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3823358
hg1923358
hg1823351
hg1723351
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv678349, nssv666368, nssv676825, nssv689180, nssv677791, nssv671022, nssv659051, nssv664527, nssv670540, nssv691524, nssv651968, nssv692783, nssv670736, nssv658933
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517420
Frequency
Sample Size2026
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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