A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17711859



Internal ID135525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:17580799..17580850hg38UCSC Ensembl
chr17:17484113..17484164hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5430057
Supporting Variants
Samples
Known GenesPEMT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17711859
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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