A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605263



Internal ID16392672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:166748083..166749605hg38UCSC Ensembl
Innerchr6:167161571..167163093hg19UCSC Ensembl
Innerchr6:167081561..167083083hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381523
hg191523
hg181523
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11040n54
Supporting Variantsnssv1076268, nssv1076269, nssv1076267, nssv1076270
Samples
Known GenesRPS6KA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv605263
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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