A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246394



Internal ID22376399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:89744798..90095507hg38UCSC Ensembl
chr11:89477966..89828675hg19UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg38350710
hg19350710
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14467269, nssv14460792, nssv14453827, nssv14455177
SamplesNA19238, NA19239, NA19240, HG00513
Known GenesMIR5692A1, TRIM49, TRIM49C, TRIM49D1, TRIM49D2P, TRIM53AP, TRIM64, TRIM64B, UBTFL1
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246394
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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