A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216880



Internal ID22362726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:128240915..128240967hg38UCSC Ensembl
chr8:129253161..129253213hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9341n152
Supporting Variantsnssv14345078, nssv14345077
SamplesHG00512, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216880
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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