A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061896



Internal ID18804427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15500459..15890342hg38UCSC Ensembl
Innerchr22:16087621..16477504hg19UCSC Ensembl
Innerchr22:14467621..14857504hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38389884
hg19389884
hg18389884
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4453n100
Supporting Variantsnssv3731774
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)nsv1061896
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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