A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587475



Internal ID16374884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:38744120..38780448hg38UCSC Ensembl
Innerchr21:40116044..40152372hg19UCSC Ensembl
Innerchr21:39037914..39074242hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3836329
hg1936329
hg1836329
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7833n54
Supporting Variantsnssv1152404, nssv1152403, nssv1152401, nssv1152402, nssv946771, nssv946772
SamplesHGDP00445, HGDP00232, HGDP00582, HGDP00206
Known GenesLINC00114
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587475
Frequency
Sample Size17421
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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