A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587669



Internal ID16028392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43401987..43419802hg38UCSC Ensembl
Innerchr21:44821867..44839682hg19UCSC Ensembl
Innerchr21:43646295..43664110hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3817816
hg1917816
hg1817816
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7868n54
Supporting Variantsnssv1152417
Samples1780854486_A
Known GenesSIK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587669
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