A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv566186



Internal ID16006909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105209364..105312968hg38UCSC Ensembl
Innerchr14:105675701..105779305hg19UCSC Ensembl
Innerchr14:104746746..104850350hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38103605
hg19103605
hg18103605
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1148636
SamplesHGDP00527
Known GenesBRF1, BTBD6, PACS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv566186
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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