A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234958



Internal ID22373161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:129811645..129868059hg38UCSC Ensembl
Outerchr12:130296190..130352604hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38666
hg19666
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2078n152
Supporting Variantsnssv14256230, nssv14256228, nssv14256229
SamplesNA19238, HG00731, HG00513
Known GenesTMEM132D
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234958
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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