A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521633



Internal ID297922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45836461..45839494hg38UCSC Ensembl
chr20:44465100..44468133hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg383034
hg193034
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732639
Samples
Known GenesSNX21
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521633
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