A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258593



Internal ID22305149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:24750821..24796666hg38UCSC Ensembl
Outerchr15:24995968..25041813hg19UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg381167
hg191167
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238097
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258593
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