A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5524347



Internal ID300555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:55640361..55652532hg38UCSC Ensembl
chr18:53307592..53319763hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3812172
hg1912172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718390
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5524347
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