A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512654



Internal ID15852079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:35248974..35250176hg38UCSC Ensembl
Outerchr22:35644967..35646169hg19UCSC Ensembl
Outerchr22:33974967..33976169hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg381203
hg191203
hg181203
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625272
Samples1
Known Genes
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512654
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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