A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220642



Internal ID22365284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:8307905..8314929hg38UCSC Ensembl
chr16:8357907..8364931hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg387025
hg197025
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14384145, nssv14387331, nssv14374290
SamplesNA19238, NA19239, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220642
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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