A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14342136



Internal ID22128030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100674447..100677177hg38UCSC Ensembl
chr8:101686675..101689405hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg382731
hg192731
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3528300
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14342136
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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