A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042300



Internal ID18784831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:134386590..134414596hg38UCSC Ensembl
Innerchr11:134256484..134284490hg19UCSC Ensembl
Innerchr11:133761694..133789700hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3828007
hg1928007
hg1828007
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3506562
Samples
Known GenesB3GAT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042300
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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