A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14449474



Internal ID22221838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:43696684..43697189hg38UCSC Ensembl
chr20:42325324..42325829hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38506
hg19506
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192270
Supporting Variants
SamplesHG00733
Known GenesMYBL2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14449474
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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