A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561225



Internal ID22430006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50006138..50006138hg38UCSC Ensembl
chr19:50509395..50509395hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38506
hg19506
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14291686, nssv14291685, nssv14291687
SamplesNA19239, HG00732, HG00733
Known GenesVRK3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3561225
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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