A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549481



Internal ID15990204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:243619472..243620373hg38UCSC Ensembl
Innerchr1:243782774..243783675hg19UCSC Ensembl
Innerchr1:241849397..241850298hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38902
hg19902
hg18902
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv880n54
Supporting Variantsnssv739249, nssv739246, nssv739247, nssv739248, nssv739251, nssv739250
Samples
Known GenesAKT3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549481
Frequency
Sample Size17421
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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