A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14387331



Internal ID22259415
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220642
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14387331
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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