A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220099



Internal ID22364904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:123859644..123875514hg38UCSC Ensembl
Outerchr3:123578491..123594361hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg386150
hg196150
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272257, nssv14272254, nssv14272256, nssv14272255
SamplesNA19238, HG00731, HG00732, HG00733
Known GenesMYLK
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220099
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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