A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5536427



Internal ID311905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44764788..44908604hg38UCSC Ensembl
chr21:46184703..46328519hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38143817
hg19143817
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17727163
Samples
Known GenesITGB2, PTTG1IP, SUMO3, UBE2G2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5536427
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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