A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5942400



Internal ID22717837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5774558..5774750hg38UCSC Ensembl
chr19:5774569..5774761hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38193
hg19193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17393612
Samples
Known GenesCATSPERD
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5942400
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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