A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060978



Internal ID18803509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46068159..46413726hg38UCSC Ensembl
Innerchr21:47488073..47833640hg19UCSC Ensembl
Innerchr21:46312501..46658068hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38345568
hg19345568
hg18345568
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3733463
Samples
Known GenesC21orf58, COL6A2, FTCD, LSS, MCM3AP, MCM3AP-AS1, PCNT, SPATC1L, YBEY
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060978
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