A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4587n100



Internal ID22790674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45571646..45600230hg38UCSC Ensembl
chr22:45967526..45996110hg19UCSC Ensembl
chr22:44346190..44374774hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3828585
hg1928585
hg1828585
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1061550, nsv1056413, nsv1062390
Samples
Known GenesFBLN1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4587n100
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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