A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056111



Internal ID18798642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23929337..23982670hg38UCSC Ensembl
Innerchr22:24271524..24324861hg19UCSC Ensembl
Innerchr22:22601524..22654861hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3853334
hg1953338
hg1853338
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4532n100
Supporting Variantsnssv3586546
Samples
Known GenesDDT, DDTL, GSTT2, GSTT2B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056111
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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