A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211894



Internal ID22359304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114760901..114766500hg38UCSC Ensembl
chr12:115198706..115204305hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg385600
hg195600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2004n152
Supporting Variantsnssv14367132, nssv14367133, nssv14367138, nssv14367131, nssv14367135, nssv14367139, nssv14367136, nssv14367137, nssv14367134
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)nsv3211894
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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