A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14344694



Internal ID22285225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:134346390..134346449hg38UCSC Ensembl
chr8:135358633..135358692hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3529234
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14344694
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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