A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14409225



Internal ID22325705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:52465594..52465723hg38UCSC Ensembl
chr4:53331760..53331889hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3275666
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a SVA mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14409225
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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