A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999479



Internal ID18845874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:26772168..26773828hg38UCSC Ensembl
Outerchr22:27168131..27169791hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg381661
hg191661
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1146277
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999479
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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