A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259574



Internal ID22132864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:55946064..55986828hg38UCSC Ensembl
Outerchr15:56238262..56279026hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg386086
hg196086
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233415
Supporting Variants
SamplesHG00513
Known GenesNEDD4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259574
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer