A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17633510



Internal ID21825557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50114578..50116225hg38UCSC Ensembl
chr20:48731115..48732762hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg381648
hg191648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6058931
Supporting Variants
Samples
Known GenesTMEM189-UBE2V1, UBE2V1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17633510
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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