A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518332



Internal ID294725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40014000..40014241hg38UCSC Ensembl
chr19:40519907..40520148hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723376
Samples
Known GenesZNF546
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518332
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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