A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17716372



Internal ID140038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13465825..13466867hg38UCSC Ensembl
chr18:13465824..13466866hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg381043
hg191043
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5517382
Supporting Variants
Samples
Known GenesLDLRAD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17716372
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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