A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205194



Internal ID22353926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151451168..151453540hg38UCSC Ensembl
chr1:151423644..151426016hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg382373
hg192373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14286430, nssv14286431
SamplesHG00512, HG00514
Known GenesPOGZ
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205194
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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