A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14308765



Internal ID22139181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133560768..133560768hg38UCSC Ensembl
chr3:133279612..133279612hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562945
Supporting Variants
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14308765
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer