A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14366459



Internal ID22121020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113635051..113638250hg38UCSC Ensembl
chr12:114072856..114076055hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg383200
hg193200
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218843
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14366459
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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