A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258598



Internal ID22221711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:25514910..25544384hg38UCSC Ensembl
Outerchr15:25760057..25789531hg19UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg381417
hg191417
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249777
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258598
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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