A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14424935



Internal ID22164590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:153247983..153247983hg38UCSC Ensembl
chr4:154169135..154169135hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520623
Supporting Variants
SamplesHG00514
Known GenesTRIM2
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)nssv14424935
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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