A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547809



Internal ID321616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42041597..42041623hg38UCSC Ensembl
chr21:43461706..43461732hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17727036
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547809
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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