A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055593



Internal ID19144812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:79108241..79549025hg38UCSC Ensembl
Innerchr17:77104323..77545109hg19UCSC Ensembl
Innerchr17:74615918..75056704hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38440785
hg19440787
hg18440787
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3567828
Samples
Known GenesRBFOX3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055593
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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