A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv503n100



Internal ID22786590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196710325..196847588hg38UCSC Ensembl
chr1:196679455..196816718hg19UCSC Ensembl
chr1:194946078..195083341hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38137264
hg19137264
hg18137264
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1000910, nsv1010624, nsv1004934, nsv1007752
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)dgv503n100
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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