A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14343457



Internal ID22268760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:116436481..116436549hg38UCSC Ensembl
chr8:117448719..117448787hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213451
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14343457
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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