A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214079



Internal ID22360834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58599024..58599112hg38UCSC Ensembl
chr20:57174080..57174168hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5325n152
Supporting Variantsnssv14460958
SamplesHG00733
Known GenesAPCDD1L-AS1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214079
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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