A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559692



Internal ID16347101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:86704278..86869916hg38UCSC Ensembl
Innerchr12:87098055..87263693hg19UCSC Ensembl
Innerchr12:85622186..85787824hg18UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg38165639
hg19165639
hg18165639
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv800004
Samples
Known GenesMGAT4C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559692
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