A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv541n100



Internal ID22786628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196801995..196913266hg38UCSC Ensembl
chr1:196771125..196882396hg19UCSC Ensembl
chr1:195037748..195149019hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38111272
hg19111272
hg18111272
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1007767, nsv1012345
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)dgv541n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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