A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548863



Internal ID16336272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196856733..196927958hg38UCSC Ensembl
Innerchr1:196825863..196897088hg19UCSC Ensembl
Innerchr1:195092486..195163711hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3871226
hg1971226
hg1871226
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv753n54
Supporting Variantsnssv734099, nssv1174028
SamplesHGDP00894
Known GenesCFHR4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548863
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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