A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14343272



Internal ID22210830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56136160..56185976hg38UCSC Ensembl
chr8:57048719..57098535hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3849817
hg1949817
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3528842
Supporting Variants
SamplesHG00732
Known GenesPLAG1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14343272
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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