A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559796



Internal ID16000519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:94148343..94149908hg38UCSC Ensembl
Innerchr12:94542119..94543684hg19UCSC Ensembl
Innerchr12:93066250..93067815hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381566
hg191566
hg181566
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2795n54
Supporting Variantsnssv800736
Samples
Known GenesPLXNC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559796
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