A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5929369



Internal ID22704621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46680748..46680997hg38UCSC Ensembl
chr19:47184005..47184254hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17402011
Samples
Known GenesPRKD2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5929369
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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