A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14397449



Internal ID22289201
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 StatusS
Merged Variantsnsv3213851
Supporting Variants
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)nssv14397449
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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