A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17715470



Internal ID139136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:65689955..65690055hg38UCSC Ensembl
chr17:63686073..63686173hg19UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5533756
Supporting Variants
Samples
Known GenesCEP112
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17715470
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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