A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220060



Internal ID22364879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:40080379..40086527hg38UCSC Ensembl
Outerchr3:40121870..40128018hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38823
hg19823
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271392
SamplesNA19238
Known GenesMYRIP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220060
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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