A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256065



Internal ID22131662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:124313458..124329035hg38UCSC Ensembl
Outerchr12:124798004..124813581hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38690
hg19690
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3250276
Supporting Variants
SamplesHG00513
Known GenesFAM101A, NCOR2, ZNF664-FAM101A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256065
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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