A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063129



Internal ID19152348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:79367419..79471877hg38UCSC Ensembl
Innerchr17:77363501..77467959hg19UCSC Ensembl
Innerchr17:74875096..74979554hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38104459
hg19104459
hg18104459
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3290n100
Supporting Variantsnssv3567858
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)nsv1063129
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer