A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215289



Internal ID22361674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6979051..6980813hg38UCSC Ensembl
chr12:7088213..7089975hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381763
hg191763
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14362648, nssv14362643, nssv14362641, nssv14362647, nssv14362646, nssv14362644, nssv14362640, nssv14362645, nssv14362642
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLPCAT3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215289
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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