A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213851



Internal ID22360664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111256151..111258700hg38UCSC Ensembl
chr12:111693955..111696504hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg382550
hg192550
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1993n152
Supporting Variantsnssv14397449
SamplesNA19240
Known GenesCUX2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213851
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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