A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv536n100



Internal ID22786623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196787880..196843388hg38UCSC Ensembl
chr1:196757010..196812518hg19UCSC Ensembl
chr1:195023633..195079141hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3855509
hg1955509
hg1855509
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1014462, nsv1013426
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)dgv536n100
Frequency
Sample Size11257
Observed Gain17
Observed Loss2
Observed Complex0
Frequencyn/a


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