A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255314



Internal ID22131348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:19776154..19801158hg38UCSC Ensembl
Outerchr12:19929088..19954092hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232636
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255314
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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