A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211806



Internal ID22359246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114532193..114532760hg38UCSC Ensembl
chr12:114969998..114970565hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38568
hg19568
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14367119
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211806
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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