A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3176452



Internal ID22333883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:37947525..37947577hg38UCSC Ensembl
chr4:37949146..37949198hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14409166
SamplesNA19240
Known GenesTBC1D1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a Alu.Moasic mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3176452
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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