A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223956



Internal ID22367554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:64018827..64041740hg38UCSC Ensembl
chr20:62650180..62673093hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3822914
hg1922914
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5391n152
Supporting Variantsnssv14434013
SamplesHG00514
Known GenesLINC00176, PRPF6
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223956
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