A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255836



Internal ID22131570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:38845620..38870029hg38UCSC Ensembl
Outerchr12:39239422..39263831hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg382069
hg192069
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234091
Supporting Variants
SamplesHG00513
Known GenesCPNE8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255836
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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