A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548832



Internal ID16336241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196826893..196918327hg38UCSC Ensembl
Innerchr1:196796023..196887457hg19UCSC Ensembl
Innerchr1:195062646..195154080hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3891435
hg1991435
hg1891435
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv751n54
Supporting Variantsnssv734050
Samples
Known GenesCFHR1, CFHR4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548832
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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