A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14308223



Internal ID22274895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:148849005..148849321hg38UCSC Ensembl
chr3:148566792..148567108hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523244
Supporting Variants
SamplesNA19239
Known GenesCPB1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYB8 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14308223
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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