A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14385485



Internal ID22294613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55279174..55280809hg38UCSC Ensembl
chr16:55313086..55314721hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg381636
hg191636
Variant TypeCNV duplication
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214245
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14385485
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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