A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605264



Internal ID16392673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:166748083..166749660hg38UCSC Ensembl
Innerchr6:167161571..167163148hg19UCSC Ensembl
Innerchr6:167081561..167083138hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381578
hg191578
hg181578
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11040n54
Supporting Variantsnssv1076271, nssv1076272
Samples
Known GenesRPS6KA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv605264
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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