A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17407889



Internal ID22465759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48870726..48886044hg38UCSC Ensembl
chr19:49373983..49389301hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3815319
hg1915319
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5936977
Supporting Variants
Samples
Known GenesPPP1R15A, TULP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17407889
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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