A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv734102



Internal ID16028058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196884203..196905941hg38UCSC Ensembl
Innerchr1:196853333..196875071hg19UCSC Ensembl
Innerchr1:195119956..195141694hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3821739
hg1921739
hg1821739
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv548867
Supporting Variants
Samples
Known GenesCFHR4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv734102
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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