A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200000



Internal ID22349512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:56388131..56388192hg38UCSC Ensembl
chr20:54963187..54963248hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14421650, nssv14449001
SamplesHG00733, HG00514
Known GenesAURKA
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200000
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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