A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011339



Internal ID18753873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:151258123..151536426hg38UCSC Ensembl
Innerchr2:152114637..152392940hg19UCSC Ensembl
Innerchr2:151822883..152101186hg18UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38278304
hg19278304
hg18278304
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4094n100
Supporting Variantsnssv3582968
Samples
Known GenesMIR4773-1, MIR4773-2, NEB, 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)nsv1011339
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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