A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205615



Internal ID22354285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:145538272..145539562hg38UCSC Ensembl
chr4:146459424..146460714hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg381291
hg191291
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14317459, nssv14317463, nssv14317462, nssv14317458, nssv14317464, nssv14317465, nssv14317466, nssv14317461, nssv14317460
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSMAD1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205615
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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