A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv603091



Internal ID16390500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:49901735..49980346hg38UCSC Ensembl
Innerchr6:49869448..49948059hg19UCSC Ensembl
Innerchr6:49977407..50056018hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3878612
hg1978612
hg1878612
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1058828
Samples
Known GenesDEFB113, DEFB114, DEFB133
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv603091
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