A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517543



Internal ID293962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41155810..41177116hg38UCSC Ensembl
chr19:41661715..41683021hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3821307
hg1921307
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723481
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517543
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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