A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17716656



Internal ID140322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:23585078..23585116hg38UCSC Ensembl
chr18:21165042..21165080hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg386005
hg196005
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5562346
Supporting Variants
Samples
Known GenesNPC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17716656
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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