A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557537



Internal ID22426343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:119968522..119968522hg38UCSC Ensembl
chr9:122730800..122730800hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14404252, nssv14460688
SamplesNA19240, HG00733
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)nsv3557537
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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