A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4550n100



Internal ID20156166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25265409..25608716hg38UCSC Ensembl
chr22:25661376..26004683hg19UCSC Ensembl
chr22:23991376..24334683hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38343308
hg19343308
hg18343308
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1062303, nsv1056844, nsv1062131, nsv1058118, nsv1061233, nsv1066012, nsv1060016, nsv1059891, nsv1064526, nsv1056712, nsv1055616
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)dgv4550n100
Frequency
Sample Size29084
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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