A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3586533



Internal ID18538128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23856378..23929546hg38UCSC Ensembl
Innerchr22:24198565..24271733hg19UCSC Ensembl
Innerchr22:22528565..22601733hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3873169
hg1973169
hg1873169
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1065308
Supporting Variants
Samples
Known GenesLOC284889, MIF, SLC2A11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3586533
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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