A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17721977



Internal ID145643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17767443..17768900hg38UCSC Ensembl
chr19:17878252..17879709hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg381458
hg191458
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5529624
Supporting Variants
Samples
Known GenesFCHO1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17721977
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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