A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14368530



Internal ID22283987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:58931368..58936638hg38UCSC Ensembl
chr1:59397040..59402310hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg385271
hg195271
Variant TypeCNV duplication
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203650
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14368530
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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