A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv585446



Internal ID16372855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14528803..14573099hg38UCSC Ensembl
Innerchr20:14509449..14553745hg19UCSC Ensembl
Innerchr20:14457449..14501745hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3844297
hg1944297
hg1844297
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv938045
Samples
Known GenesMACROD2, MACROD2-IT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv585446
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