A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14341593



Internal ID22177633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60012917..60012994hg38UCSC Ensembl
chr8:60925476..60925553hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3528217
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14341593
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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