A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14424116



Internal ID22163381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109357616..109357713hg38UCSC Ensembl
chr12:109795421..109795518hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3288893
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14424116
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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