A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044556



Internal ID19133775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:54953335..55272314hg38UCSC Ensembl
Innerchr11:54720811..55039790hg19UCSC Ensembl
Innerchr11:54477387..54796366hg18UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg38318980
hg19318980
hg18318980
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1163n100
Supporting Variantsnssv3516247
Samples
Known GenesTRIM48
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044556
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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