A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276448



Internal ID22253838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:5851434..5863113hg38UCSC Ensembl
Outerchr10:5893397..5905076hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg3811680
hg1911680
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220260
Supporting Variants
SamplesNA19238
Known GenesANKRD16
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276448
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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