A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3587254



Internal ID18538849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18888903..19019471hg38UCSC Ensembl
Innerchr22:18876416..19006984hg19UCSC Ensembl
Innerchr22:17256416..17386984hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38130569
hg19130569
hg18130569
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1064452
Supporting Variants
Samples
Known GenesDGCR5, DGCR6, DGCR9, PRODH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3587254
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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