A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521053



Internal ID297356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38968329..39014979hg38UCSC Ensembl
chr19:39458969..39505619hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3846651
hg1946651
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723300
Samples
Known GenesFBXO17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521053
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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