A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587990



Internal ID16375399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46383002..46384034hg38UCSC Ensembl
Innerchr21:47802917..47803949hg19UCSC Ensembl
Innerchr21:46627345..46628377hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381033
hg191033
hg181033
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7932n54
Supporting Variantsnssv949389, nssv949395, nssv949386, nssv949388, nssv949393, nssv949390, nssv949392, nssv949382, nssv949383, nssv949394, nssv949387, nssv949391, nssv949385, nssv949384
Samples
Known GenesPCNT
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587990
Frequency
Sample Size17421
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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