A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700420



Internal ID15090386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:3138909..3158333hg38UCSC Ensembl
Innerchr20:3119555..3138979hg19UCSC Ensembl
Innerchr20:3067555..3086979hg18UCSC Ensembl
Innerchr20:3067555..3086979hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3819425
hg1919425
hg1819425
hg1719425
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524482
Supporting Variants
Samples
Known GenesFASTKD5, UBOX5, UBOX5-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700420
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer