A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14452122



Internal ID22247071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:124922700..124922700hg38UCSC Ensembl
chr3:124641547..124641547hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523701
Supporting Variants
SamplesHG00733
Known GenesMUC13
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a Alu.Mosaic mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14452122
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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