A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230107



Internal ID22371739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:63158801..63162100hg38UCSC Ensembl
chr8:64071360..64074659hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg383300
hg193300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14342330, nssv14342332, nssv14342328, nssv14342329, nssv14342331, nssv14342334, nssv14342327, nssv14342335, nssv14342333
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230107
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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