A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514155



Internal ID290656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:19587710..19590481hg38UCSC Ensembl
chr19:19698519..19701290hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg382772
hg192772
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17722111
Samples
Known GenesPBX4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514155
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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