A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587955



Internal ID16028678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46169185..46170963hg38UCSC Ensembl
Innerchr21:47589099..47590877hg19UCSC Ensembl
Innerchr21:46413527..46415305hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381779
hg191779
hg181779
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7922n54
Supporting Variantsnssv949307
Samples
Known GenesSPATC1L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587955
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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