A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5552729



Internal ID326046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:32376879..32376920hg38UCSC Ensembl
chr20:30964682..30964723hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17731951
Samples
Known GenesASXL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5552729
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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