A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3551926



Internal ID22420831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:32342707..32342707hg38UCSC Ensembl
chr21:33715016..33715016hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14422699, nssv14396080, nssv14449096
SamplesNA19240, HG00733, HG00514
Known GenesURB1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3551926
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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