A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243449



Internal ID22375576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:131017611..131067029hg38UCSC Ensembl
Outerchr10:132815874..132865292hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg382575
hg192575
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14252979, nssv14252981, nssv14252980
SamplesNA19238, NA19239, HG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243449
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer