A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5947148



Internal ID22722650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46711653..46711874hg38UCSC Ensembl
chr19:47214910..47215131hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38222
hg19222
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401567
Samples
Known GenesPRKD2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5947148
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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