A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548761



Internal ID16336170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196743127..196832482hg38UCSC Ensembl
Innerchr1:196712257..196801612hg19UCSC Ensembl
Innerchr1:194978880..195068235hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3889356
hg1989356
hg1889356
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv734n54
Supporting Variantsnssv733959
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)nsv548761
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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