A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257563



Internal ID22118320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:98603268..98611429hg38UCSC Ensembl
Outerchr13:99255522..99263683hg19UCSC Ensembl
Cytoband13q32.2
Allele length
AssemblyAllele length
hg381120
hg191120
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231443
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257563
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