A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549486



Internal ID15990209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:243619640..243620373hg38UCSC Ensembl
Innerchr1:243782942..243783675hg19UCSC Ensembl
Innerchr1:241849565..241850298hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38734
hg19734
hg18734
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv880n54
Supporting Variantsnssv739288
Samples
Known GenesAKT3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549486
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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