A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214575



Internal ID22361193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:48207350..48222127hg38UCSC Ensembl
Outerchr3:48248840..48263617hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38805
hg19805
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271832, nssv14271835, nssv14271833, nssv14271834
SamplesNA19239, HG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214575
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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