A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012891



Internal ID18755423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:151163295..151450383hg38UCSC Ensembl
Innerchr2:152019809..152306897hg19UCSC Ensembl
Innerchr2:151728055..152015143hg18UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38287089
hg19287089
hg18287089
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582966
Samples
Known GenesMIR4773-1, MIR4773-2, NMI, RBM43, RIF1, TNFAIP6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012891
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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