A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517630



Internal ID294046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46888271..46888335hg38UCSC Ensembl
chr19:47391528..47391592hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723715
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517630
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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