A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256558



Internal ID22271302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:18873183..18878599hg38UCSC Ensembl
Outerchr13:19447323..19452739hg19UCSC Ensembl
Cytoband13q11
Allele length
AssemblyAllele length
hg385953
hg195953
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241872
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256558
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