A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605279



Internal ID16392688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:166748589..166752298hg38UCSC Ensembl
Innerchr6:167162077..167165786hg19UCSC Ensembl
Innerchr6:167082067..167085776hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg383710
hg193710
hg183710
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11043n54
Supporting Variantsnssv1076476, nssv1076477
Samples
Known GenesRPS6KA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv605279
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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