A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5930945



Internal ID22706221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46371019..46372491hg38UCSC Ensembl
chr19:46874276..46875748hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381473
hg191473
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17395390
Samples
Known GenesPPP5C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5930945
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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