A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548743



Internal ID16336152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196679339..196682935hg38UCSC Ensembl
Innerchr1:196648469..196652065hg19UCSC Ensembl
Innerchr1:194915092..194918688hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg383597
hg193597
hg183597
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv733936, nssv733935
Samples
Known GenesCFH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548743
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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