A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548762



Internal ID16336171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196743127..196844140hg38UCSC Ensembl
Innerchr1:196712257..196813270hg19UCSC Ensembl
Innerchr1:194978880..195079893hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38101014
hg19101014
hg18101014
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv734n54
Supporting Variantsnssv733960
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)nsv548762
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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