A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14320076



Internal ID22171367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43206690..43212461hg38UCSC Ensembl
chr5:43206792..43212563hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg385772
hg195772
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202308
Supporting Variants
SamplesHG00514
Known GenesNIM1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14320076
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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