A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201458



Internal ID22350763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63445633..63445694hg38UCSC Ensembl
chr20:62076986..62077047hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5381n152
Supporting Variantsnssv14422498
SamplesHG00514
Known GenesKCNQ2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201458
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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