A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3543716



Internal ID22412767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28404859..28404859hg38UCSC Ensembl
chr16:28416180..28416180hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg382620
hg192620
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14419347
SamplesHG00514
Known GenesEIF3C
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3543716
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