A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548747



Internal ID16336156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196690048..196701627hg38UCSC Ensembl
Innerchr1:196659178..196670757hg19UCSC Ensembl
Innerchr1:194925801..194937380hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3811580
hg1911580
hg1811580
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv733941
Samples
Known GenesCFH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548747
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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