A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227342



Internal ID22369867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43685279..43685359hg38UCSC Ensembl
chr12:44079082..44079162hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1824n152
Supporting Variantsnssv14363932, nssv14363930, nssv14363933, nssv14363931
SamplesHG00512, HG00731, HG00732, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227342
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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