A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3567746



Internal ID18519341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:67661672..67891780hg38UCSC Ensembl
Innerchr17:65657788..65887896hg19UCSC Ensembl
Innerchr17:63088250..63318358hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38230109
hg19230109
hg18230109
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1066511
Supporting Variants
Samples
Known GenesBPTF, NOL11, PITPNC1, SNORA38B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3567746
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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