A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058359



Internal ID18800890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44304172..44547662hg38UCSC Ensembl
Innerchr21:45724055..45967545hg19UCSC Ensembl
Innerchr21:44548483..44791973hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38243491
hg19243491
hg18243491
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3600221
Samples
Known GenesC21orf2, C21orf90, KRTAP10-1, LRRC3, LRRC3-AS1, PFKL, TRPM2, TSPEAR, TSPEAR-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058359
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