A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511146



Internal ID15850571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:222201036..222205803hg38UCSC Ensembl
Outerchr1:222193266..222206896hg38UCSC Ensembl
Innerchr1:222374378..222379145hg19UCSC Ensembl
Outerchr1:222366608..222380238hg19UCSC Ensembl
Innerchr1:220441001..220445768hg18UCSC Ensembl
Outerchr1:220433231..220446861hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3813631
hg1913631
hg1813631
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625821
Samples1
Known Genes
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511146
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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