A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3587342



Internal ID18538937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19108115..19151855hg38UCSC Ensembl
Innerchr22:19095628..19139368hg19UCSC Ensembl
Innerchr22:17475628..17519368hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3843741
hg1943741
hg1843741
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1056141
Supporting Variants
Samples
Known GenesDGCR14, DGCR2, GSC2, TSSK2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3587342
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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