A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14380324



Internal ID22314230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2415488..2418964hg38UCSC Ensembl
chr17:2318782..2322258hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg383477
hg193477
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212590
Supporting Variants
SamplesNA19240
Known GenesMETTL16
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14380324
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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