A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546818



Internal ID15987541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:91770491..92113649hg38UCSC Ensembl
Innerchr1:92236048..92579206hg19UCSC Ensembl
Innerchr1:92008636..92351794hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38343159
hg19343159
hg18343159
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv365n54
Supporting Variantsnssv719298
Samples
Known GenesBRDT, BTBD8, EPHX4, TGFBR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546818
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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