A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202956



Internal ID22352046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:106467465..106467556hg38UCSC Ensembl
chr2:107083921..107084012hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4724n152
Supporting Variantsnssv14294223, nssv14294222
SamplesNA19239, NA19240
Known GenesRGPD3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202956
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