A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519470



Internal ID295818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46735772..46736081hg38UCSC Ensembl
chr19:47239029..47239338hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723686
Samples
Known GenesSTRN4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519470
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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