A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239785



Internal ID22374526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:129811645..129866714hg38UCSC Ensembl
Outerchr12:130296190..130351259hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2078n152
Supporting Variantsnssv14256227
SamplesNA19238
Known GenesTMEM132D
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239785
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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