A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514439



Internal ID290936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:51321034..51321999hg38UCSC Ensembl
chr19:51824288..51825253hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38966
hg19966
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17725378
Samples
Known GenesIGLON5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514439
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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