A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565299



Internal ID16006022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:81516683..82119980hg38UCSC Ensembl
Innerchr14:81983027..82586324hg19UCSC Ensembl
Innerchr14:81052780..81656077hg18UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38603298
hg19603298
hg18603298
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv830094
Samples
Known GenesSEL1L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565299
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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