A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064136



Internal ID18806667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23831207..23915592hg38UCSC Ensembl
Innerchr22:24173394..24257779hg19UCSC Ensembl
Innerchr22:22503394..22587779hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3884386
hg1984386
hg1884386
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4531n100
Supporting Variantsnssv3586529
Samples
Known GenesDERL3, LOC284889, MIF, SLC2A11, SMARCB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064136
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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