A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259439



Internal ID22317871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:27610249..27640240hg38UCSC Ensembl
Outerchr15:27855395..27885386hg19UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg386030
hg196030
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240764
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259439
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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