A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5563239



Internal ID336176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60393038..60393089hg38UCSC Ensembl
chr17:58470399..58470450hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724884
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5563239
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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