A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3551397



Internal ID22420310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41672809..41672809hg38UCSC Ensembl
chr21:43092969..43092969hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381084
hg191084
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14423717, nssv14395693, nssv14450064
SamplesNA19240, HG00733, 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)nsv3551397
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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