A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217235



Internal ID22362959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:2127246..2127298hg38UCSC Ensembl
chr11:2148476..2148528hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1236n152
Supporting Variantsnssv14357247, nssv14357245, nssv14357243, nssv14357244, nssv14357246, nssv14357248, nssv14357242, nssv14357249
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217235
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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