A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14381372



Internal ID22290323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4939251..4939574hg38UCSC Ensembl
chr16:4989252..4989575hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213067
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14381372
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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