A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517428



Internal ID293850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:35037723..35037844hg38UCSC Ensembl
chr17:33364742..33364863hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712790
Samples
Known GenesRAD51L3-RFFL, RFFL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517428
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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