A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559052



Internal ID16346461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:59138422..59415475hg38UCSC Ensembl
Innerchr12:59532203..59809256hg19UCSC Ensembl
Innerchr12:57818470..58095523hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38277054
hg19277054
hg18277054
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv796462
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559052
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