A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557825



Internal ID22426629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176692542..176692542hg38UCSC Ensembl
chr5:176119543..176119543hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14426337, nssv14399218, nssv14462426
SamplesNA19240, HG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3557825
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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