A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3291203



Internal ID22387829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:46420053..46420128hg38UCSC Ensembl
chr20:45048692..45048767hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5284n152
Supporting Variantsnssv14408859
SamplesNA19240
Known Genes
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)nsv3291203
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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