A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3600584



Internal ID18898865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25293094..25520419hg38UCSC Ensembl
Innerchr22:25689061..25916386hg19UCSC Ensembl
Innerchr22:24019061..24246386hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38227326
hg19227326
hg18227326
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1058210
Supporting Variants
Samples
Known GenesCRYBB2P1, 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)nssv3600584
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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