A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522701



Internal ID22392123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6318736..6318736hg38UCSC Ensembl
chr19:6318747..6318747hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38675
hg19675
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14446239, nssv14393460, nssv14420858
SamplesNA19240, HG00733, HG00514
Known GenesACER1
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)nsv3522701
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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