A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv554593



Internal ID16342002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:54525403..54540195hg38UCSC Ensembl
Innerchr11:51579085..51593877hg19UCSC Ensembl
Innerchr11:51435661..51450453hg18UCSC Ensembl
Cytoband11p11.11
Allele length
AssemblyAllele length
hg3814793
hg1914793
hg1814793
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1855n54
Supporting Variantsnssv774650, nssv774649
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv554593
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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