A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5532011



Internal ID307946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:44762213..44764542hg38UCSC Ensembl
chr20:43390854..43393183hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg382330
hg192330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732574
Samples
Known GenesRIMS4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5532011
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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