A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3589211



Internal ID18887492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15471515..15922838hg38UCSC Ensembl
Innerchr22:16055171..16506448hg19UCSC Ensembl
Innerchr22:14435171..14886448hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38451324
hg19451278
hg18451278
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1064425
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)nssv3589211
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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