A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17716668



Internal ID140334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:23988419..23988470hg38UCSC Ensembl
chr18:21568383..21568434hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5418943
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17716668
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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