A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427843



Internal ID206737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:29775939..29775990hg38UCSC Ensembl
chr19:30266846..30266897hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38264
hg19264
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17722671
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427843
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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