A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218349



Internal ID22363722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130524232..130524343hg38UCSC Ensembl
chr8:131536478..131536589hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14343935, nssv14343934, nssv14343933
SamplesNA19238, NA19239, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218349
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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