A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14308206



Internal ID22327832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:148488689..148489006hg38UCSC Ensembl
chr3:148206476..148206793hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3524297
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14308206
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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