A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587857



Internal ID16028580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45506637..45538385hg38UCSC Ensembl
Innerchr21:46926551..46958299hg19UCSC Ensembl
Innerchr21:45750979..45782727hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3831749
hg1931749
hg1831749
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7903n54
Supporting Variantsnssv948540
Samples
Known GenesCOL18A1, SLC19A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587857
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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