A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv828206



Internal ID15775476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:60457291..61377535hg38UCSC Ensembl
Innerchr14:60924009..61844253hg19UCSC Ensembl
Innerchr14:59993762..60914006hg18UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38920245
hg19920245
hg18920245
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv564881
Supporting Variants
Samples
Known GenesC14orf39, MNAT1, PRKCH, SIX1, SIX4, SIX6, SLC38A6, TMEM30B, TRMT5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv828206
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