A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv602981



Internal ID16390390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:41734282..41735464hg38UCSC Ensembl
Innerchr6:41702020..41703202hg19UCSC Ensembl
Innerchr6:41809998..41811180hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg381183
hg191183
hg181183
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10636n54
Supporting Variantsnssv1058408, nssv1058410, nssv1058409
Samples
Known GenesTFEB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv602981
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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