A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14341171



Internal ID22281866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:81334368..81334467hg38UCSC Ensembl
chr8:82246603..82246702hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3528323
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14341171
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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