A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714216



Internal ID137882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68278595..68278676hg38UCSC Ensembl
chr17:66274736..66274817hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5533289
Supporting Variants
Samples
Known GenesARSG, SLC16A6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714216
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001093


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