A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215960



Internal ID22362114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236087553..236099929hg38UCSC Ensembl
Outerchr1:236250853..236263229hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg383524
hg193524
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269850, nssv14269851
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215960
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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