A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256063



Internal ID22131658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:101147956..101157445hg38UCSC Ensembl
Outerchr12:101541734..101551223hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3824580
hg1924580
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238203
Supporting Variants
SamplesHG00513
Known GenesSLC5A8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256063
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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