A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14341647



Internal ID22316393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42585754..42585806hg38UCSC Ensembl
chr8:42440897..42440949hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219680
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14341647
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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