A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523518



Internal ID22392946
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5916n152
Supporting Variantsnssv14307245, nssv14307248, nssv14307247, nssv14307249, nssv14307246
SamplesHG00512, NA19238, NA19239, NA19240, HG00514
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)nsv3523518
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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