A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557257



Internal ID15997980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6720306..6789294hg38UCSC Ensembl
Innerchr12:6829472..6898460hg19UCSC Ensembl
Innerchr12:6699733..6768721hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3868989
hg1968989
hg1868989
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv787253
Samples
Known GenesCOPS7A, LAG3, MLF2, PTMS
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557257
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