A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv733944



Internal ID16027900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196741937..196898103hg38UCSC Ensembl
Innerchr1:196711067..196867233hg19UCSC Ensembl
Innerchr1:194977690..195133856hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38156167
hg19156167
hg18156167
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv548750
Supporting Variants
Samples
Known GenesCFH, CFHR1, CFHR3, CFHR4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv733944
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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