A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226271



Internal ID22369130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:119290386..119290979hg38UCSC Ensembl
chr11:119161096..119161689hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38594
hg19594
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1595n152
Supporting Variantsnssv14361346, nssv14361347, nssv14361345, nssv14361343, nssv14361344
SamplesHG00512, NA19239, HG00732, NA19240, HG00733
Known GenesCBL
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226271
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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