A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv506n100



Internal ID22786593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196737547..196801995hg38UCSC Ensembl
chr1:196706677..196771125hg19UCSC Ensembl
chr1:194973300..195037748hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3864449
hg1964449
hg1864449
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv997480, nsv1009750, nsv1011322, nsv1003137, nsv1008005, nsv1008567
Samples
Known GenesCFH, CFHR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv506n100
Frequency
Sample Size11257
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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