A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593115



Internal ID16380524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197106779..197258725hg38UCSC Ensembl
Innerchr3:196833650..196985596hg19UCSC Ensembl
Innerchr3:198318047..198469993hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38151947
hg19151947
hg18151947
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153419
SamplesHGDP00533
Known GenesDLG1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593115
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