A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549066



Internal ID15989789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:206011786..206014870hg38UCSC Ensembl
Innerchr1:206326498..206329582hg19UCSC Ensembl
Innerchr1:204493121..204496205hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg383085
hg193085
hg183085
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv789n54
Supporting Variantsnssv734980
Samples
Known GenesCTSE
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549066
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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