A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239282



Internal ID22374379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132361394..132368104hg38UCSC Ensembl
Outerchr12:132937980..132944690hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38774
hg19774
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256077, nssv14256076, nssv14256075
SamplesHG00731, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239282
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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