A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3550757



Internal ID22419679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:59830178..59830178hg38UCSC Ensembl
chr20:58405233..58405233hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14395962
SamplesNA19240
Known GenesPHACTR3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3550757
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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