A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244038



Internal ID22375746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:120916028..120932010hg38UCSC Ensembl
Outerchr12:121353831..121369813hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38991
hg19991
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256417, nssv14256416, nssv14256414, nssv14256415, nssv14256418
SamplesNA19238, NA19239, HG00731, HG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244038
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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