A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511241



Internal ID15850666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:145517719..145518839hg38UCSC Ensembl
Outerchr4:145514998..145529818hg38UCSC Ensembl
Innerchr4:146438871..146439991hg19UCSC Ensembl
Outerchr4:146436150..146450970hg19UCSC Ensembl
Innerchr4:146658321..146659441hg18UCSC Ensembl
Outerchr4:146655600..146670420hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3814821
hg1914821
hg1814821
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624577
Samples1
Known GenesSMAD1
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511241
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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