A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062235



Internal ID18804766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:48748132..49199634hg38UCSC Ensembl
Innerchr22:49143944..49595560hg19UCSC Ensembl
Innerchr22:47529950..47981564hg18UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38451503
hg19451617
hg18451615
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3592286
Samples
Known GenesFAM19A5, LOC100128946, MIR4535
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062235
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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