A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14408148



Internal ID22293514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:29578779..29579101hg38UCSC Ensembl
chr3:29620270..29620592hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3188941
Supporting Variants
SamplesNA19240
Known GenesRBMS3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14408148
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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