A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226442



Internal ID22369240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38810785..38814771hg38UCSC Ensembl
chr8:38668303..38672289hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg383987
hg193987
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14341248, nssv14341247, nssv14341252, nssv14341249, nssv14341245, nssv14341250, nssv14341244, nssv14341251, nssv14341246
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesTACC1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226442
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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