A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv526n100



Internal ID22786613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196769481..196855458hg38UCSC Ensembl
chr1:196738611..196824588hg19UCSC Ensembl
chr1:195005234..195091211hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3885978
hg1985978
hg1885978
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1005391, nsv1011529, nsv1000915, nsv998950, nsv1003706, nsv1002413, nsv1003601, nsv1000998, nsv1009352
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)dgv526n100
Frequency
Sample Size11257
Observed Gain517
Observed Loss243
Observed Complex0
Frequencyn/a


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