A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17716818



Internal ID140484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:26856644..26856695hg38UCSC Ensembl
chr18:24436608..24436659hg19UCSC 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 Variantsnsv5426399
Supporting Variants
Samples
Known GenesAQP4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17716818
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002029


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