A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241411



Internal ID22374965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:128465675..128484153hg38UCSC Ensembl
Outerchr12:128950220..128968698hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38975
hg19975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256225, nssv14256223, nssv14256221, nssv14256226, nssv14256222, nssv14256220, nssv14256219, nssv14256224
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known GenesTMEM132C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241411
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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