A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057188



Internal ID18799719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18083522..18141992hg38UCSC Ensembl
Innerchr22:18566288..18624759hg19UCSC Ensembl
Innerchr22:16946288..17004759hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3858471
hg1958472
hg1858472
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3731800
Samples
Known GenesPEX26, TUBA8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057188
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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