A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14400496



Internal ID22314599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:112074313..112074313hg38UCSC Ensembl
chr6:112395516..112395516hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3524361
Supporting Variants
SamplesNA19240
Known GenesTUBE1
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)nssv14400496
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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