A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14362928



Internal ID22254072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80042161..80044758hg38UCSC Ensembl
chr12:80435941..80438538hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg382598
hg192598
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220548
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14362928
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