A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14321151



Internal ID22131677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:74345886..74351349hg38UCSC Ensembl
chr5:73641711..73647174hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg385464
hg195464
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195464
Supporting Variants
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14321151
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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