A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717786



Internal ID141452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:43984981..43985110hg38UCSC Ensembl
chr18:41564946..41565075hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527792
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717786
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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