A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14341121



Internal ID22173169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:78687702..78687772hg38UCSC Ensembl
chr8:79599937..79600007hg19UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212310
Supporting Variants
SamplesHG00514
Known GenesZC2HC1A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14341121
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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