A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233465



Internal ID22372766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:58939743..58970272hg38UCSC Ensembl
Outerchr12:59333524..59364053hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg387058
hg197058
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255375, nssv14255377, nssv14255376
SamplesNA19238, NA19239, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233465
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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