A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518232



Internal ID294629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:32061000..32066100hg38UCSC Ensembl
chr20:30648803..30653903hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg385101
hg195101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17731934
Samples
Known GenesHCK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518232
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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