A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257431



Internal ID22221348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:49881774..49892035hg38UCSC Ensembl
Outerchr13:50455910..50466171hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg381355
hg191355
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239568
Supporting Variants
SamplesHG00733
Known GenesCTAGE10P
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257431
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