A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5967753



Internal ID22742689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:18352266..18352266hg38UCSC Ensembl
chr19:18463076..18463076hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38201
hg19201
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401276
Samples
Known GenesPGPEP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5967753
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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