A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522706



Internal ID22392129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:26484866..26484866hg38UCSC Ensembl
chr4:26486488..26486488hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38284
hg19284
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14424234
SamplesHG00514
Known GenesCCKAR
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)nsv3522706
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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