A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270213



Internal ID22316284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:119933453..119960412hg38UCSC Ensembl
Outerchr3:119652300..119679259hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg3826960
hg1926960
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201835
Supporting Variants
SamplesNA19240
Known GenesGSK3B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270213
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