A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523521



Internal ID22392949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2480930..2480930hg38UCSC Ensembl
chr19:2480928..2480928hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38464
hg19464
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14419917, nssv14392780, nssv14447063
SamplesNA19240, HG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3523521
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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