A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511135



Internal ID15503874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:243619472..243620430hg38UCSC Ensembl
Outerchr1:243618542..243634497hg38UCSC Ensembl
Innerchr1:243782774..243783732hg19UCSC Ensembl
Outerchr1:243781844..243797799hg19UCSC Ensembl
Innerchr1:241849397..241850355hg18UCSC Ensembl
Outerchr1:241848467..241864422hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3815956
hg1915956
hg1815956
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624599
Samples1
Known GenesAKT3
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511135
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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