A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225057



Internal ID22368302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92126470..92126577hg38UCSC Ensembl
chr12:92520246..92520353hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14364922, nssv14364923, nssv14364921
SamplesNA19238, NA19239, NA19240
Known GenesC12orf79
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225057
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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