A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4578n100



Internal ID22790665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42488885..42585161hg38UCSC Ensembl
chr22:42884891..42981167hg19UCSC Ensembl
chr22:41214835..41311111hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3896277
hg1996277
hg1896277
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1060218, nsv1059768, nsv1056630, nsv1062860, nsv1057090, nsv1060470, nsv1064504, nsv1058067, nsv1062875, nsv1060243, nsv1065275
Samples
Known GenesPOLDIP3, RRP7A, RRP7B, SERHL, SERHL2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4578n100
Frequency
Sample Size11257
Observed Gain31
Observed Loss0
Observed Complex0
Frequencyn/a


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