A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514696



Internal ID291190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:55457294..55460701hg38UCSC Ensembl
chr17:53534655..53538062hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg383408
hg193408
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724768
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514696
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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