A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234291



Internal ID22372989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:58059905..58076955hg38UCSC Ensembl
Outerchr12:58453688..58470738hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg388867
hg198867
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255366, nssv14255365, nssv14255364, nssv14255362, nssv14255363, nssv14255361
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234291
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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