A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3546790



Internal ID22415772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:23268014..23268014hg38UCSC Ensembl
chr20:23248651..23248651hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14394321, nssv14422449
SamplesNA19240, HG00514
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)nsv3546790
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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