A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417373



Internal ID196571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:56803482..56803533hg38UCSC Ensembl
chr20:55378538..55378589hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17733259
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417373
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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