A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055443



Internal ID18797974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21943550..22227679hg38UCSC Ensembl
Innerchr22:22297922..22582073hg19UCSC Ensembl
Innerchr22:20627922..20912073hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38284130
hg19284152
hg18284152
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4494n100
Supporting Variantsnssv3588836
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)nsv1055443
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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