A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212313



Internal ID22359604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:102103330..102107310hg38UCSC Ensembl
Outerchr1:102568886..102572866hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg385905
hg195905
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275808, nssv14275807
SamplesHG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212313
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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