A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5535611



Internal ID311224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42432404..42432404hg38UCSC Ensembl
chr21:43852513..43852513hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38203
hg19203
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17727059
Samples
Known GenesUBASH3A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5535611
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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