A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060053



Internal ID19149272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13221902..13883095hg38UCSC Ensembl
Innerchr21:14594223..15255416hg19UCSC Ensembl
Innerchr21:13516094..14177287hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38661194
hg19661194
hg18661194
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4382n100
Supporting Variantsnssv3585303
Samples
Known GenesC21orf15, LOC100288966, MIR3156-3, MIR8069, POTED
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060053
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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