A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202246



Internal ID22351435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54131499..54131552hg38UCSC Ensembl
chr20:52748038..52748091hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14421635
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)nsv3202246
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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