A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255364



Internal ID22200121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:58059905..58076955hg38UCSC Ensembl
Outerchr12:58453688..58470738hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg388867
hg198867
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234291
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255364
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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