A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14395879



Internal ID22298349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111296655..111296739hg38UCSC Ensembl
chr12:111734459..111734543hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200038
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)nssv14395879
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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