A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14342093



Internal ID22209947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:98073433..98073934hg38UCSC Ensembl
chr8:99085661..99086162hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg38502
hg19502
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229087
Supporting Variants
SamplesHG00732
Known GenesC8orf47
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14342093
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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