A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256805



Internal ID22283778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:16061659..16111508hg38UCSC Ensembl
Outerchr12:16214593..16264442hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg383552
hg193552
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239786
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256805
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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