A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3589209



Internal ID18540804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15473168..15922838hg38UCSC Ensembl
Innerchr22:16055171..16504795hg19UCSC Ensembl
Innerchr22:14435171..14884795hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38449671
hg19449625
hg18449625
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1057832
Supporting Variants
Samples
Known GenesBMS1P17, BMS1P18, OR11H1, POTEH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3589209
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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