A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233765



Internal ID22372841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:109648621..109667710hg38UCSC Ensembl
Outerchr12:110086426..110105515hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38807
hg19807
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255471, nssv14255470, nssv14255469, nssv14255468
SamplesNA19238, NA19239, HG00731, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233765
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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