A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14308647



Internal ID22273351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129358321..129365582hg38UCSC Ensembl
chr3:129077164..129084425hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg387262
hg197262
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526716
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14308647
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