A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv563597



Internal ID16351006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18504256..19489674hg38UCSC Ensembl
Innerchr14:19280733..20075427hg19UCSC Ensembl
Innerchr14:18350733..19145427hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38985419
hg19794695
hg18794695
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3494n54
Supporting Variantsnssv821300, nssv821299
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, POTEG, POTEM
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv563597
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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