A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592480



Internal ID16033203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:165721745..165828928hg38UCSC Ensembl
Innerchr3:165439533..165546716hg19UCSC Ensembl
Innerchr3:166922227..167029410hg18UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg38107184
hg19107184
hg18107184
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8724n54
Supporting Variantsnssv981181
Samples
Known GenesBCHE
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592480
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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