A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253492



Internal ID22185881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:118415458..118425955hg38UCSC Ensembl
Outerchr10:120174970..120185467hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg381112
hg191112
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240917
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253492
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