A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548758



Internal ID16336167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196743127..196818812hg38UCSC Ensembl
Innerchr1:196712257..196787942hg19UCSC Ensembl
Innerchr1:194978880..195054565hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3875686
hg1975686
hg1875686
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv736n54
Supporting Variantsnssv733955
Samples
Known GenesCFH, CFHR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548758
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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