A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3288357



Internal ID22386770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121747853..121747937hg38UCSC Ensembl
chr12:122185759..122185843hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14396634
SamplesNA19240
Known GenesTMEM120B
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)nsv3288357
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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