A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18197726



Internal ID20764766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:18362556..18364444hg38UCSC Ensembl
chr19:18473366..18475254hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg381889
hg191889
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6521874
Supporting Variants
Samples
Known GenesPGPEP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18197726
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00015


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