A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3530193



Internal ID22399583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:38065118..38065118hg38UCSC Ensembl
chr3:38106609..38106609hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg383017
hg193017
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14423927
SamplesHG00514
Known GenesDLEC1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3530193
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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