A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3564163



Internal ID18515758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:31755212..31934302hg38UCSC Ensembl
Innerchr18:29335175..29514265hg19UCSC Ensembl
Innerchr18:27589173..27768263hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38179091
hg19179091
hg18179091
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1057229
Supporting Variants
Samples
Known GenesSLC25A52, TRAPPC8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3564163
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