A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240213



Internal ID22374637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:47176138..47181252hg38UCSC Ensembl
Outerchr10:48558110..48563224hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg382436
hg192436
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253121, nssv14253120, nssv14253122, nssv14253123, nssv14253107, nssv14253124, nssv14253108, nssv14253125, nssv14253109
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240213
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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