A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv786370



Internal ID15733640
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 StatusS
Merged Variantsnsv556989
Supporting Variants
Samples
Known GenesFBXL14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv786370
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer