A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5515252



Internal ID291735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2077342..2081431hg38UCSC Ensembl
chr19:2077341..2081430hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg384090
hg194090
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17720338
Samples
Known GenesMOB3A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5515252
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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