A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257577



Internal ID22330059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:100057581..100066753hg38UCSC Ensembl
Outerchr13:100709835..100719007hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg382438
hg192438
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239064
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257577
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