A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064818



Internal ID18807349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:35829407..35979177hg38UCSC Ensembl
Innerchr22:36225454..36375225hg19UCSC Ensembl
Innerchr22:34555400..34705171hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38149771
hg19149772
hg18149772
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3600843
Samples
Known GenesRBFOX2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064818
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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