A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059226



Internal ID18801757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70674795..70745241hg38UCSC Ensembl
Innerchr16:70708698..70779144hg19UCSC Ensembl
Innerchr16:69266199..69336645hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3870447
hg1970447
hg1870447
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3559547
Samples
Known GenesMTSS1L, VAC14
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059226
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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