A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv949323



Internal ID15896593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46179999..46183988hg38UCSC Ensembl
Innerchr21:47599913..47603902hg19UCSC Ensembl
Innerchr21:46424341..46428330hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383990
hg193990
hg183990
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587964
Supporting Variants
Samples
Known GenesSPATC1L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv949323
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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