A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256484



Internal ID22271342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132749179..132793892hg38UCSC Ensembl
Outerchr12:133325765..133370478hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg384361
hg194361
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233679
Supporting Variants
SamplesNA19239
Known GenesANKLE2, GOLGA3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256484
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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