A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14397231



Internal ID22304520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:14834043..14834043hg38UCSC Ensembl
chr4:14835667..14835667hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523839
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14397231
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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