A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214446



Internal ID22361103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:87560534..87577932hg38UCSC Ensembl
Outerchr3:87609684..87627082hg19UCSC Ensembl
Cytoband3p11.2
Allele length
AssemblyAllele length
hg38900
hg19900
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272191, nssv14272193, nssv14272192
SamplesNA19238, NA19240, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214446
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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