A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518453



Internal ID15445746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:177002992..177192806hg38UCSC Ensembl
Innerchr3:176720780..176910594hg19UCSC Ensembl
Innerchr3:178203474..178393288hg18UCSC Ensembl
Innerchr3:178203482..178393296hg17UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg38189815
hg19189815
hg18189815
hg17189815
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695890
Samples
Known GenesTBL1XR1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518453
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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