A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255210



Internal ID22256378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:101147956..101157445hg38UCSC Ensembl
Outerchr12:101541734..101551223hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg389490
hg199490
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218198
Supporting Variants
SamplesNA19238
Known GenesSLC5A8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255210
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