A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv946670



Internal ID15893940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:34073143..34073811hg38UCSC Ensembl
Innerchr21:35445443..35446111hg19UCSC Ensembl
Innerchr21:34367313..34367981hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38669
hg19669
hg18669
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587410
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)nssv946670
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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