A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17718600



Internal ID142266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:59932734..59932785hg38UCSC Ensembl
chr18:57599966..57600017hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38470
hg19470
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5564073
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17718600
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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