A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14364922



Internal ID22280667
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225057
Supporting Variants
SamplesNA19239
Known GenesC12orf79
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14364922
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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