A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555741



Internal ID328891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:17968972..17968975hg38UCSC Ensembl
chr21:19341289..19341292hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg381529
hg191529
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726151
Samples
Known GenesCHODL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555741
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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