A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5432433



Internal ID211175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45223417..45223468hg38UCSC Ensembl
chr20:43852058..43852109hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732599
Samples
Known GenesSEMG2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5432433
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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