A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14383872



Internal ID22318953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117335841..117335841hg38UCSC Ensembl
chr12:117773646..117773646hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523164
Supporting Variants
SamplesNA19240
Known GenesNOS1
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)nssv14383872
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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