A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218843



Internal ID22364061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113635051..113638250hg38UCSC Ensembl
chr12:114072856..114076055hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg383200
hg193200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14366466, nssv14366465, nssv14366460, nssv14366467, nssv14366464, nssv14366459, nssv14366462, nssv14366461, nssv14366463
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218843
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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