A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3548113



Internal ID22417074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63350676..63350676hg38UCSC Ensembl
chr20:61982028..61982028hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381806
hg191806
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14422491
SamplesHG00514
Known GenesCHRNA4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3548113
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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