A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547871



Internal ID16335280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152557356..152618666hg38UCSC Ensembl
Innerchr1:152529832..152591142hg19UCSC Ensembl
Innerchr1:150796456..150857766hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3861311
hg1961311
hg1861311
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv568n54
Supporting Variantsnssv1173198
SamplesHGDP00868
Known GenesLCE3B, LCE3C, LCE3D, LCE3E
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547871
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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