A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714042



Internal ID137708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63963567..63963681hg38UCSC Ensembl
chr17:62040927..62041041hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5528400
Supporting Variants
Samples
Known GenesSCN4A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714042
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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