A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253823



Internal ID22220044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:2383564..2393676hg38UCSC Ensembl
Outerchr10:2425758..2435870hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg382589
hg192589
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3247924
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253823
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