A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3298234



Internal ID22388784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:19679502..19679572hg38UCSC Ensembl
chr20:19660146..19660216hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5196n152
Supporting Variantsnssv14406637
SamplesNA19240
Known GenesSLC24A3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3298234
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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