A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv504n100



Internal ID22786591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196729100..196884377hg38UCSC Ensembl
chr1:196698230..196853507hg19UCSC Ensembl
chr1:194964853..195120130hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38155278
hg19155278
hg18155278
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1006453, nsv1014771, nsv1001242, nsv1006109, nsv1014500, nsv1005452, nsv1008192, nsv1012228, nsv1002377, nsv1005907, nsv1005093
Samples
Known GenesCFH, CFHR1, CFHR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv504n100
Frequency
Sample Size11257
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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