A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717439



Internal ID141105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:37969388..37969432hg38UCSC Ensembl
chr18:35549352..35549396hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5419033
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717439
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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