A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548760



Internal ID16336169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196743127..196831912hg38UCSC Ensembl
Innerchr1:196712257..196801042hg19UCSC Ensembl
Innerchr1:194978880..195067665hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3888786
hg1988786
hg1888786
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv734n54
Supporting Variantsnssv733958, nssv733957
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)nsv548760
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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