A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258603



Internal ID22253965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:25482504..25544384hg38UCSC Ensembl
Outerchr15:25727651..25789531hg19UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg381271
hg191271
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249247
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258603
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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