A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548759



Internal ID16336168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196743127..196829859hg38UCSC Ensembl
Innerchr1:196712257..196798989hg19UCSC Ensembl
Innerchr1:194978880..195065612hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3886733
hg1986733
hg1886733
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv734n54
Supporting Variantsnssv733956
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)nsv548759
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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