A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230218



Internal ID22371808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88583946..88590753hg38UCSC Ensembl
chr12:88977723..88984530hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg386808
hg196808
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14364840, nssv14364837, nssv14364839, nssv14364845, nssv14364842, nssv14364844, nssv14364843, nssv14364841, nssv14364838
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)nsv3230218
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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