A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193389



Internal ID22343842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132471824..132474969hg38UCSC Ensembl
chr12:133048410..133051555hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg383146
hg193146
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2137n152
Supporting Variantsnssv14424618, nssv14424617
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193389
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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