A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215555



Internal ID22361848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236087553..236117688hg38UCSC Ensembl
Outerchr1:236250853..236280988hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg387904
hg197904
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266018, nssv14266020, nssv14266023, nssv14266019, nssv14269834, nssv14269835, nssv14266021, nssv14266022
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215555
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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