A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv733947



Internal ID16027903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196742053..196852792hg38UCSC Ensembl
Innerchr1:196711183..196821922hg19UCSC Ensembl
Innerchr1:194977806..195088545hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38110740
hg19110740
hg18110740
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv548753
Supporting Variants
Samples
Known GenesCFH, CFHR1, CFHR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv733947
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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