A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214424



Internal ID22361087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:11372718..11379938hg38UCSC Ensembl
Outerchr1:11432775..11439995hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg381349
hg191349
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259985, nssv14259990, nssv14259988, nssv14259983, nssv14259989, nssv14259987, nssv14259986, nssv14259984
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)nsv3214424
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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