A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14397743



Internal ID22289134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:87807395..87807395hg38UCSC Ensembl
chr4:88728547..88728547hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523990
Supporting Variants
SamplesNA19240
Known GenesIBSP
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)nssv14397743
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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