A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518585



Internal ID294970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:53786147..53788452hg38UCSC Ensembl
chr19:54289401..54291706hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg382306
hg192306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724296
Samples
Known GenesMIR371A, MIR371B, MIR372
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518585
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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