A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512664



Internal ID15852089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:50432272..50435111hg38UCSC Ensembl
Outerchr22:50870701..50873540hg19UCSC Ensembl
Outerchr22:49217567..49220406hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg382840
hg192840
hg182840
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625283
Samples1
Known GenesPPP6R2
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512664
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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