A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521295



Internal ID22390708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:81491929..81491929hg38UCSC Ensembl
chr14:81958273..81958273hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14384465
SamplesNA19240
Known GenesSEL1L
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)nsv3521295
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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