A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564881



Internal ID16005604
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 StatusM
Merged Variants
Supporting Variantsnssv828206
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)nsv564881
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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