A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003226



Internal ID18745757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130723031..131504656hg38UCSC Ensembl
Innerchr2:131480604..132262229hg19UCSC Ensembl
Innerchr2:131197074..131978699hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38781626
hg19781626
hg18781626
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4075n100
Supporting Variantsnssv3580844
Samples
Known GenesAMER3, ARHGEF4, FAM168B, GPR148, LINC01120, LOC150776, LOC401010, LOC440910, MIR4784, MZT2A, PLEKHB2, POTEE, RNU6-81P, TUBA3D, WTH3DI
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003226
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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