A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17619935



Internal ID21811982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53489674..53494188hg38UCSC Ensembl
chr20:52106213..52110727hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg384515
hg194515
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6054058
Supporting Variants
Samples
Known GenesTSHZ2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17619935
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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