A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236771



Internal ID22373686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:115373269..115379795hg38UCSC Ensembl
Outerchr12:115811074..115817600hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38790
hg19790
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255957, nssv14255956, nssv14255955
SamplesHG00512, NA19239, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236771
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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