A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587673



Internal ID16028396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43403599..43433979hg38UCSC Ensembl
Innerchr21:44823479..44853859hg19UCSC Ensembl
Innerchr21:43647907..43678287hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3830381
hg1930381
hg1830381
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7869n54
Supporting Variantsnssv947424
Samples
Known GenesSIK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587673
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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