A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280628



Internal ID22211969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:67783874..67797085hg38UCSC Ensembl
Outerchr10:69543632..69556843hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg3813212
hg1913212
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227629
Supporting Variants
SamplesHG00733
Known GenesDNAJC12
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280628
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