A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194260



Internal ID22344595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:39973437..39976125hg38UCSC Ensembl
chr21:41345364..41348052hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg382689
hg192689
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5532n152
Supporting Variantsnssv14434468, nssv14433339
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194260
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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