A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061192



Internal ID18803723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46599898..46668351hg38UCSC Ensembl
Innerchr21:48019811..48088263hg19UCSC Ensembl
Innerchr21:46844239..46912691hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3868454
hg1968453
hg1868453
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4444n100
Supporting Variantsnssv3600332
Samples
Known GenesPRMT2, S100B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061192
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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