A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587856



Internal ID16375265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45506637..45525426hg38UCSC Ensembl
Innerchr21:46926551..46945340hg19UCSC Ensembl
Innerchr21:45750979..45769768hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3818790
hg1918790
hg1818790
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv948539
Samples
Known GenesCOL18A1, SLC19A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587856
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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