A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523275



Internal ID299519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45713967..45714083hg38UCSC Ensembl
chr19:46217225..46217341hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723603
Samples
Known GenesFBXO46
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523275
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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