A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17715475



Internal ID139141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:65763248..65763299hg38UCSC Ensembl
chr17:63759366..63759417hg19UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg38220
hg19220
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5430701
Supporting Variants
Samples
Known GenesCEP112
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17715475
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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