A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv540n100



Internal ID22786627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196801553..196932623hg38UCSC Ensembl
chr1:196770683..196901753hg19UCSC Ensembl
chr1:195037306..195168376hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38131071
hg19131071
hg18131071
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv997383, nsv1013866, nsv1004264, nsv1014690
Samples
Known GenesCFHR1, CFHR4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv540n100
Frequency
Sample Size11257
Observed Gain9
Observed Loss11
Observed Complex0
Frequencyn/a


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