A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523147



Internal ID22392572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88996497..88996497hg38UCSC Ensembl
chr5:88292314..88292314hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38290
hg19290
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14398660
SamplesNA19240
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)nsv3523147
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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