A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517104



Internal ID293535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49298915..49302469hg38UCSC Ensembl
chr20:47915452..47919006hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg383555
hg193555
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732824
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517104
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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