A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3188408



Internal ID22340228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:165974127..165974438hg38UCSC Ensembl
chr4:166895279..166895590hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6937n152
Supporting Variantsnssv14410451
SamplesNA19240
Known GenesTLL1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3188408
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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