A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556993



Internal ID15997716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1593904..1595159hg38UCSC Ensembl
Innerchr12:1703070..1704325hg19UCSC Ensembl
Innerchr12:1573331..1574586hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381256
hg191256
hg181256
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv786380
Samples
Known GenesFBXL14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556993
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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