A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3600818



Internal ID18552413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:32410608..32449416hg38UCSC Ensembl
Innerchr22:32806595..32845403hg19UCSC Ensembl
Innerchr22:31136595..31175403hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3838809
hg1938809
hg1838809
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1055701
Supporting Variants
Samples
Known GenesBPIFC, RTCB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3600818
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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