A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517130



Internal ID293560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38634432..38643913hg38UCSC Ensembl
chr19:39125072..39134553hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg389482
hg199482
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723269
Samples
Known GenesEIF3K
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517130
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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