A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17013687



Internal ID76802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:65748020..65748086hg38UCSC Ensembl
chr8:66660255..66660321hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5487877
Supporting Variants
Samples
Known GenesPDE7A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17013687
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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