A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514455



Internal ID290952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4849883..4853491hg38UCSC Ensembl
chr19:4849895..4853503hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg383609
hg193609
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17720770
Samples
Known GenesPLIN3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514455
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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