A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212636



Internal ID22359817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:18746962..18793066hg38UCSC Ensembl
Outerchr3:18788454..18834558hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg382290
hg192290
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272557, nssv14272558, nssv14272559
SamplesHG00731, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212636
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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