A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3600642



Internal ID18552237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25304928..25598360hg38UCSC Ensembl
Innerchr22:25700895..25994327hg19UCSC Ensembl
Innerchr22:24030895..24324327hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38293433
hg19293433
hg18293433
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1058118
Supporting Variants
Samples
Known GenesADRBK2, CRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3600642
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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