A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5520912



Internal ID297220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:4838310..4838580hg38UCSC Ensembl
chr18:4838309..4838579hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716013
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5520912
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