A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv946676



Internal ID15893946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:34073143..34074261hg38UCSC Ensembl
Innerchr21:35445443..35446561hg19UCSC Ensembl
Innerchr21:34367313..34368431hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg381119
hg191119
hg181119
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587414
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)nssv946676
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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