A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3588836



Internal ID18540431
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 StatusS
Merged Variantsnsv1055443
Supporting Variants
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)nssv3588836
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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