A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213451



Internal ID22360398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:116436481..116436549hg38UCSC Ensembl
chr8:117448719..117448787hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14343456, nssv14343458, nssv14343457
SamplesNA19238, HG00731, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213451
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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