A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059964



Internal ID18802495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21943275..22225429hg38UCSC Ensembl
Innerchr22:22297647..22579822hg19UCSC Ensembl
Innerchr22:20627647..20909822hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38282155
hg19282176
hg18282176
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4494n100
Supporting Variantsnssv3588832, nssv3588831
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)nsv1059964
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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