A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14402375



Internal ID22294036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124067660..124067660hg38UCSC Ensembl
chr8:125079901..125079901hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3521350
Supporting Variants
SamplesNA19240
Known GenesFER1L6, FER1L6-AS2
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)nssv14402375
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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