A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522308



Internal ID22391729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:102000595..102000595hg38UCSC Ensembl
chr10:103760352..103760352hg19UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14385336
SamplesNA19240
Known GenesC10orf76
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3522308
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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