A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14339689



Internal ID22139126
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3528271
Supporting Variants
SamplesHG00513
Known GenesSCARA5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14339689
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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