A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559010



Internal ID16346419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:55817620..55818284hg38UCSC Ensembl
Innerchr12:56211404..56212068hg19UCSC Ensembl
Innerchr12:54497671..54498335hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38665
hg19665
hg18665
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv796295
Samples
Known GenesORMDL2, SARNP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559010
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