A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14341159



Internal ID22317369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80307646..80307727hg38UCSC Ensembl
chr8:81219881..81219962hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3528269
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14341159
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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