A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192742



Internal ID22343283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:56388098..56388157hg38UCSC Ensembl
chr20:54963154..54963213hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14395932
SamplesNA19240
Known GenesAURKA
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192742
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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