A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066341



Internal ID19155560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:48767465..48784723hg38UCSC Ensembl
Innerchr22:49163277..49180535hg19UCSC Ensembl
Innerchr22:47549283..47566541hg18UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg3817259
hg1917259
hg1817259
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4589n100
Supporting Variantsnssv3592291, nssv3592290
Samples
Known GenesMIR4535
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066341
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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