A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6041254



Internal ID21950590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44287180..44349861hg38UCSC Ensembl
chr21:45707063..45769744hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3862682
hg1962682
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17648515
Samples
Known GenesAIRE, C21orf2, PFKL
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6041254
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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