A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523679



Internal ID22393107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:155954589..155954589hg38UCSC Ensembl
chr1:155924380..155924380hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14438914, nssv14413273, nssv14376371
SamplesNA19240, HG00733, HG00514
Known GenesARHGEF2
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)nsv3523679
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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