A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17718357



Internal ID142023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:54891269..54891425hg38UCSC Ensembl
chr18:52558500..52558656hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5529722
Supporting Variants
Samples
Known GenesRAB27B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17718357
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.004995


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