A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14387224



Internal ID22307037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111326419..111326419hg38UCSC Ensembl
chr12:111764223..111764223hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38540
hg19540
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3557308
Supporting Variants
SamplesNA19240
Known GenesCUX2
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)nssv14387224
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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