A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269850



Internal ID22271164
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215960
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269850
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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