A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433003



Internal ID211731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57492647..57492698hg38UCSC Ensembl
chr20:56067703..56067754hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17733297
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433003
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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