A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717312



Internal ID140978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:35496831..35496831hg38UCSC Ensembl
chr18:33076795..33076795hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38382
hg19382
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5561206
Supporting Variants
Samples
Known GenesINO80C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717312
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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