A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587419



Internal ID16374828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:34073603..34074261hg38UCSC Ensembl
Innerchr21:35445903..35446561hg19UCSC Ensembl
Innerchr21:34367773..34368431hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38659
hg19659
hg18659
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv946683
Samples
Known GenesMRPS6, SLC5A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587419
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