A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523895



Internal ID22393324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231944828..231944828hg38UCSC Ensembl
chr2:232809538..232809538hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14394687
SamplesNA19240
Known Genes
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)nsv3523895
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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