A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14376384



Internal ID22194621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:11744663..11750004hg38UCSC Ensembl
chr16:11838519..11843860hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg385342
hg195342
Variant TypeCNV duplication
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222319
Supporting Variants
SamplesHG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14376384
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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