A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5520001



Internal ID296342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:33593457..33598147hg38UCSC Ensembl
chr20:32181263..32185953hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg384691
hg194691
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732035
Samples
Known GenesCBFA2T2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5520001
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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