A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17718174



Internal ID141840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:51696681..51709796hg38UCSC Ensembl
chr18:49223051..49236166hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3813116
hg1913116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5513957
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17718174
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