A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556989



Internal ID15997712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1593541..1594930hg38UCSC Ensembl
Innerchr12:1702707..1704096hg19UCSC Ensembl
Innerchr12:1572968..1574357hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381390
hg191390
hg181390
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2270n54
Supporting Variantsnssv786370
Samples
Known GenesFBXL14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556989
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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