A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516472



Internal ID292928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3540318..3541749hg38UCSC Ensembl
chr19:3540316..3541747hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381432
hg191432
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17720586
Samples
Known GenesC19orf71, MFSD12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516472
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer