A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558884



Internal ID16346293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:51820637..51821544hg38UCSC Ensembl
Innerchr12:52214421..52215328hg19UCSC Ensembl
Innerchr12:50500688..50501595hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38908
hg19908
hg18908
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2625n54
Supporting Variantsnssv795935
Samples
Known GenesFIGNL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558884
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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