A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605278



Internal ID16392687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:166748589..166751083hg38UCSC Ensembl
Innerchr6:167162077..167164571hg19UCSC Ensembl
Innerchr6:167082067..167084561hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg382495
hg192495
hg182495
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11042n54
Supporting Variantsnssv1076473, nssv1076465, nssv1076469, nssv1076467, nssv1076474, nssv1076466, nssv1076468, nssv1076472, nssv1076475, nssv1076471, nssv1076464, nssv1076470, nssv1076463
Samples
Known GenesRPS6KA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv605278
Frequency
Sample Size17421
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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