A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548763



Internal ID16336172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196743127..196853900hg38UCSC Ensembl
Innerchr1:196712257..196823030hg19UCSC Ensembl
Innerchr1:194978880..195089653hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38110774
hg19110774
hg18110774
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv734n54
Supporting Variantsnssv733961
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)nsv548763
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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