A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14310123



Internal ID22255419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:181723751..181727100hg38UCSC Ensembl
chr3:181441539..181444888hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg383350
hg193350
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210071
Supporting Variants
SamplesNA19238
Known GenesSOX2-OT
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14310123
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