A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058343



Internal ID18800874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25507736..25642811hg38UCSC Ensembl
Innerchr22:25903703..26038778hg19UCSC Ensembl
Innerchr22:24233703..24368778hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38135076
hg19135076
hg18135076
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3600782
Samples
Known GenesADRBK2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058343
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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