A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5416930



Internal ID196138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:42206595..42206646hg38UCSC Ensembl
chr20:40835235..40835286hg19UCSC Ensembl
Cytoband20q12
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 Variantsnssv17732439
Samples
Known GenesPTPRT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5416930
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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