A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516232



Internal ID292694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:35017206..35017261hg38UCSC Ensembl
chr17:33344225..33344280hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712788
Samples
Known GenesRAD51L3-RFFL, RFFL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516232
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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