A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559453



Internal ID16346862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:80069709..80094399hg38UCSC Ensembl
Innerchr12:80463489..80488179hg19UCSC Ensembl
Innerchr12:78987620..79012310hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3824691
hg1924691
hg1824691
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv798904
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559453
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