A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523138



Internal ID299383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47053519..47053613hg38UCSC Ensembl
chr19:47556777..47556871hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723732
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523138
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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