A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3543402



Internal ID22412459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:51211007..51211007hg38UCSC Ensembl
chr20:49827544..49827544hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14396697
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)nsv3543402
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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