A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556988



Internal ID15997711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1593541..1594787hg38UCSC Ensembl
Innerchr12:1702707..1703953hg19UCSC Ensembl
Innerchr12:1572968..1574214hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381247
hg191247
hg181247
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2272n54
Supporting Variantsnssv786367, nssv786369, nssv786368
Samples
Known GenesFBXL14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556988
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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