A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557806



Internal ID15998529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27068022..27634702hg38UCSC Ensembl
Innerchr12:27220955..27787635hg19UCSC Ensembl
Innerchr12:27112222..27678902hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38566681
hg19566681
hg18566681
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2417n54
Supporting Variantsnssv789876
Samples
Known GenesARNTL2, C12orf71, PPFIBP1, SMCO2, STK38L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557806
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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