A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14296669



Internal ID22161712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:165158183..165160234hg38UCSC Ensembl
chr2:166014693..166016744hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg382052
hg192052
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192666
Supporting Variants
SamplesHG00514
Known GenesSCN3A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14296669
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