A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3274130



Internal ID22377696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11250064..11250142hg38UCSC Ensembl
chr1:11310121..11310199hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14414817
SamplesHG00514
Known GenesMTOR
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)nsv3274130
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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