A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204193



Internal ID22353081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:59149975..59150268hg38UCSC Ensembl
chr20:57725030..57725323hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg38294
hg19294
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14421675
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204193
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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