A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605265



Internal ID16392674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:166748083..166749719hg38UCSC Ensembl
Innerchr6:167161571..167163207hg19UCSC Ensembl
Innerchr6:167081561..167083197hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381637
hg191637
hg181637
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11041n54
Supporting Variantsnssv1076279, nssv1076276, nssv1076273, nssv1076281, nssv1076278, nssv1076275, nssv1076277, nssv1076280, nssv1076283, nssv1076274, nssv1076282, nssv1076284
Samples
Known GenesRPS6KA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv605265
Frequency
Sample Size17421
Observed Gain11
Observed Loss1
Observed Complex0
Frequencyn/a


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