A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17395390



Internal ID22453260
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 StatusS
Merged Variantsnsv5930945
Supporting Variants
Samples
Known GenesPPP5C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17395390
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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