A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572583



Internal ID16359992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:49855020..49858729hg38UCSC Ensembl
Innerchr16:49888931..49892640hg19UCSC Ensembl
Innerchr16:48446432..48450141hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg383710
hg193710
hg183710
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5116n54
Supporting Variantsnssv857281, nssv857280
Samples
Known GenesZNF423
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572583
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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