A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14450352



Internal ID22220942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116841751..116841805hg38UCSC Ensembl
chr12:117279556..117279610hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3289045
Supporting Variants
SamplesHG00733
Known GenesRNFT2
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)nssv14450352
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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