A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605267



Internal ID16392676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:166748083..166752298hg38UCSC Ensembl
Innerchr6:167161571..167165786hg19UCSC Ensembl
Innerchr6:167081561..167085776hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg384216
hg194216
hg184216
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11043n54
Supporting Variantsnssv1076290, nssv1076289, nssv1076288
Samples
Known GenesRPS6KA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv605267
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