A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056959



Internal ID18799490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15500921..15890342hg38UCSC Ensembl
Innerchr22:16087621..16477042hg19UCSC Ensembl
Innerchr22:14467621..14857042hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38389422
hg19389422
hg18389422
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4453n100
Supporting Variantsnssv3731773
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)nsv1056959
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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