A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214492



Internal ID22361134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:48502592..48530341hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3827750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14433569
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)nsv3214492
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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