A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv946653



Internal ID15893923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:34073078..34073989hg38UCSC Ensembl
Innerchr21:35445378..35446289hg19UCSC Ensembl
Innerchr21:34367248..34368159hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38912
hg19912
hg18912
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587403
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)nssv946653
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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