A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14340372



Internal ID22139998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22583401..22592950hg38UCSC Ensembl
chr8:22440914..22450463hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg389550
hg199550
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215721
Supporting Variants
SamplesHG00513
Known GenesPDLIM2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14340372
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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