A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556990



Internal ID15997713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1593541..1595039hg38UCSC Ensembl
Innerchr12:1702707..1704205hg19UCSC Ensembl
Innerchr12:1572968..1574466hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv786372, nssv786371
Samples
Known GenesFBXL14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556990
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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