A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv948534



Internal ID16242490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45428674..45483107hg38UCSC Ensembl
Innerchr21:46848589..46903021hg19UCSC Ensembl
Innerchr21:45673017..45727449hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3854434
hg1954433
hg1854433
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587847
Supporting Variants
Samples
Known GenesCOL18A1, MIR6815
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv948534
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