A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3528271



Internal ID22397657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27918748..27919145hg38UCSC Ensembl
chr8:27776265..27776662hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg38398
hg19398
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14339693, nssv14339692, nssv14339689, nssv14339694, nssv14339690, nssv14339691
SamplesNA19238, NA19239, HG00731, NA19240, HG00513, HG00514
Known GenesSCARA5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3528271
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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