A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549483



Internal ID15990206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:243619527..243620194hg38UCSC Ensembl
Innerchr1:243782829..243783496hg19UCSC Ensembl
Innerchr1:241849452..241850119hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38668
hg19668
hg18668
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv739259, nssv739260
Samples
Known GenesAKT3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549483
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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