A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14308196



Internal ID22225332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223798814..223799258hg38UCSC Ensembl
chr1:223986516..223986960hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38445
hg19445
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193998
Supporting Variants
SamplesHG00733
Known GenesTP53BP2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14308196
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