A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14307247



Internal ID22265319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:29578787..29579106hg38UCSC Ensembl
chr3:29620278..29620597hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523518
Supporting Variants
SamplesNA19238
Known GenesRBMS3
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)nssv14307247
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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