A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056051



Internal ID19145270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:79363311..79471877hg38UCSC Ensembl
Innerchr17:77359393..77467959hg19UCSC Ensembl
Innerchr17:74870988..74979554hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38108567
hg19108567
hg18108567
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3290n100
Supporting Variantsnssv3567846
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)nsv1056051
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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