A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv946682



Internal ID15893952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:34073344..34074140hg38UCSC Ensembl
Innerchr21:35445644..35446440hg19UCSC Ensembl
Innerchr21:34367514..34368310hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38797
hg19797
hg18797
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587418
Supporting Variants
Samples
Known GenesMRPS6, SLC5A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv946682
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