A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530793



Internal ID306764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5556435..5577107hg38UCSC Ensembl
chr19:5556446..5577118hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3820673
hg1920673
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17720832
Samples
Known GenesTINCR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530793
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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