A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518064



Internal ID294460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46777630..46777704hg38UCSC Ensembl
chr19:47280887..47280961hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723694
Samples
Known GenesSLC1A5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518064
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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