A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246879



Internal ID22376556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:153321616..153321761hg38UCSC Ensembl
chr4:154242768..154242913hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14435520
SamplesHG00514
Known GenesTRIM2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246879
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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