A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3250316



Internal ID22377502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116449745..116449934hg38UCSC Ensembl
chr12:116887550..116887739hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38190
hg19190
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14398251
SamplesNA19240
Known Genes
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)nsv3250316
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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