A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206322



Internal ID22354880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:43187628..43189111hg38UCSC Ensembl
chr4:43189645..43191128hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg381484
hg191484
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14313103, nssv14313101, nssv14313106, nssv14313104, nssv14313109, nssv14313105, nssv14313108, nssv14313102, nssv14313107
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)nsv3206322
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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