A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207576



Internal ID22355941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46692475..46692868hg38UCSC Ensembl
chr21:48112387..48112780hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38394
hg19394
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14396815
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207576
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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