A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3589267



Internal ID18540862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15471515..15875556hg38UCSC Ensembl
Innerchr22:16102407..16506448hg19UCSC Ensembl
Innerchr22:14482407..14886448hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38404042
hg19404042
hg18404042
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1061498
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)nssv3589267
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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