A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2024n152



Internal ID22817727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121728202..121728591hg38UCSC Ensembl
chr12:122166108..122166497hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38390
hg19390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3211741, nsv3529426
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00513
Known GenesTMEM120B
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2024n152
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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