A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520195



Internal ID22389603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172657429..172657429hg38UCSC Ensembl
chr2:173522157..173522157hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14394910, nssv14421491, nssv14448467
SamplesNA19240, HG00733, HG00514
Known Genes
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)nsv3520195
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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