A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548767



Internal ID16336176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196752878..196798857hg38UCSC Ensembl
Innerchr1:196722008..196767987hg19UCSC Ensembl
Innerchr1:194988631..195034610hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3845980
hg1945980
hg1845980
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv733965
Samples
Known GenesCFHR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548767
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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