A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048605



Internal ID18791136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:58767187..58904965hg38UCSC Ensembl
Innerchr11:58534660..58672438hg19UCSC Ensembl
Innerchr11:58291236..58429014hg18UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38137779
hg19137779
hg18137779
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1207n100
Supporting Variantsnssv3518280
Samples
Known GenesGLYATL2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048605
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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