A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214379



Internal ID22361051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24851174..24851501hg38UCSC Ensembl
chr16:24862495..24862822hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3185n152
Supporting Variantsnssv14377557, nssv14384210
SamplesHG00732, HG00514
Known GenesSLC5A11
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214379
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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