A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587643



Internal ID16028366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:42513593..42514449hg38UCSC Ensembl
Innerchr21:43933703..43934559hg19UCSC Ensembl
Innerchr21:42806772..42807628hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38857
hg19857
hg18857
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7863n54
Supporting Variantsnssv947384, nssv947385, nssv947383
Samples
Known GenesSLC37A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587643
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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