A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17718536



Internal ID142202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58790368..58794289hg38UCSC Ensembl
chr18:56457600..56461521hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg383922
hg193922
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5530636
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17718536
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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