A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065464



Internal ID18807995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21908678..21981308hg38UCSC Ensembl
Innerchr22:22263018..22335705hg19UCSC Ensembl
Innerchr22:20593018..20665705hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg3872631
hg1972688
hg1872688
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4492n100
Supporting Variantsnssv3588817
Samples
Known GenesPPM1F, TOP3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065464
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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