A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516946



Internal ID293385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7340075..7360383hg38UCSC Ensembl
chr19:7404975..7425269hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3820309
hg1920295
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17721032
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516946
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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