A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548771



Internal ID16336180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196757186..196932623hg38UCSC Ensembl
Innerchr1:196726316..196901753hg19UCSC Ensembl
Innerchr1:194992939..195168376hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38175438
hg19175438
hg18175438
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv733n54
Supporting Variantsnssv733969
Samples
Known GenesCFHR1, CFHR3, CFHR4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548771
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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