A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14378331



Internal ID22233342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29932833..29941154hg38UCSC Ensembl
chr17:28259851..28268172hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg388322
hg198322
Variant TypeCNV duplication
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218482
Supporting Variants
SamplesHG00733
Known GenesEFCAB5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14378331
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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