A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3525258



Internal ID22394634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43904757..43904912hg38UCSC Ensembl
chr1:44370429..44370584hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14364286, nssv14364285, nssv14364287, nssv14364290, nssv14364288, nssv14364289
SamplesHG00512, NA19239, HG00732, NA19240, HG00513, HG00514
Known GenesST3GAL3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3525258
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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