A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215537



Internal ID22361834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62048951..62053550hg38UCSC Ensembl
chr20:60624007..60628606hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg384600
hg194600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5359n152
Supporting Variantsnssv14408533
SamplesNA19240
Known GenesTAF4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215537
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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