A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14368363



Internal ID22205175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:58630800..58631234hg38UCSC Ensembl
chr1:59096472..59096906hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38435
hg19435
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207606
Supporting Variants
SamplesHG00732
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14368363
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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