A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234413



Internal ID22373020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132083958..132100745hg38UCSC Ensembl
Outerchr12:132568503..132585290hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38691
hg19691
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256050, nssv14256049, nssv14256051
SamplesHG00512, HG00731, HG00513
Known GenesEP400NL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234413
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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