A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559108



Internal ID16346517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:60125061..60154553hg38UCSC Ensembl
Innerchr12:60518842..60548334hg19UCSC Ensembl
Innerchr12:58805109..58834601hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3829493
hg1929493
hg1829493
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv796745
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559108
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