A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048136



Internal ID18790667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:56675149..57111187hg38UCSC Ensembl
Innerchr14:57141867..57577905hg19UCSC Ensembl
Innerchr14:56211620..56647658hg18UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38436039
hg19436039
hg18436039
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3531034, nssv3531033
Samples
Known GenesOTX2, OTX2-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048136
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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