A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548785



Internal ID16336194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196775758..196787170hg38UCSC Ensembl
Innerchr1:196744888..196756300hg19UCSC Ensembl
Innerchr1:195011511..195022923hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3811413
hg1911413
hg1811413
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv733988
Samples
Known GenesCFHR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548785
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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