A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587962



Internal ID16028685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46169846..46170963hg38UCSC Ensembl
Innerchr21:47589760..47590877hg19UCSC Ensembl
Innerchr21:46414188..46415305hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381118
hg191118
hg181118
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7924n54
Supporting Variantsnssv949319, nssv949320, nssv949321
Samples
Known GenesSPATC1L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587962
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer