A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255996



Internal ID22131620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:117363287..117391359hg38UCSC Ensembl
Outerchr12:117801092..117829164hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg386176
hg196176
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234530
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255996
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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