A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560689



Internal ID16001412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:128840393..129063666hg38UCSC Ensembl
Innerchr12:129324938..129548211hg19UCSC Ensembl
Innerchr12:127890891..128114164hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38223274
hg19223274
hg18223274
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv804347
Samples
Known GenesGLT1D1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560689
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