A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14398908



Internal ID22310793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:174613140..174613140hg38UCSC Ensembl
chr4:175534291..175534291hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520477
Supporting Variants
SamplesNA19240
Known Genes
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)nssv14398908
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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