A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17733247



Internal ID156913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:56657384..56664422hg38UCSC Ensembl
chr20:55232440..55239478hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg387039
hg197039
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5530836
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17733247
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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