A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520470



Internal ID22389878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:25902094..25902094hg38UCSC Ensembl
chr1:26228585..26228585hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14384464
SamplesNA19240
Known GenesSTMN1
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)nsv3520470
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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