A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211741



Internal ID22359206
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 Variantsdgv2024n152
Supporting Variantsnssv14397156
SamplesNA19240
Known GenesTMEM120B
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211741
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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