A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv946654



Internal ID15893924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:34073078..34074084hg38UCSC Ensembl
Innerchr21:35445378..35446384hg19UCSC Ensembl
Innerchr21:34367248..34368254hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg381007
hg191007
hg181007
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587404
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)nssv946654
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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