A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572787



Internal ID16360196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:58614411..58619934hg38UCSC Ensembl
Innerchr16:58648315..58653838hg19UCSC Ensembl
Innerchr16:57205816..57211339hg18UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg385524
hg195524
hg185524
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5153n54
Supporting Variantsnssv858697, nssv858696
Samples
Known GenesCNOT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572787
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer