A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv535n100



Internal ID22786622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196787880..196821901hg38UCSC Ensembl
chr1:196757010..196791031hg19UCSC Ensembl
chr1:195023633..195057654hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3834022
hg1934022
hg1834022
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1005078, nsv1014474, nsv1009818
Samples
Known GenesCFHR1, CFHR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv535n100
Frequency
Sample Size11257
Observed Gain3
Observed Loss8
Observed Complex0
Frequencyn/a


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