A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256807



Internal ID22144840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:19776154..19790918hg38UCSC Ensembl
Outerchr12:19929088..19943852hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240100
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256807
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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