A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14287210



Internal ID22129655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:116014510..116015863hg38UCSC Ensembl
chr1:116557131..116558484hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg381354
hg191354
Variant TypeCNV duplication
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191956
Supporting Variants
SamplesHG00513
Known GenesSLC22A15
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14287210
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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