A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229787



Internal ID22371519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117512351..117515450hg38UCSC Ensembl
chr11:117383066..117386165hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg383100
hg193100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1585n152
Supporting Variantsnssv14361298, nssv14361304, nssv14361305, nssv14361300, nssv14361301, nssv14361306, nssv14361299, nssv14361302, nssv14361303
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesDSCAML1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229787
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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