A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14377597



Internal ID22126190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:58391011..58393204hg38UCSC Ensembl
chr16:58424915..58427108hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg382194
hg192194
Variant TypeCNV duplication
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213843
Supporting Variants
SamplesHG00512
Known GenesGINS3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14377597
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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