A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547876



Internal ID16335285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152558034..152618089hg38UCSC Ensembl
Innerchr1:152530510..152590565hg19UCSC Ensembl
Innerchr1:150797134..150857189hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3860056
hg1960056
hg1860056
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv568n54
Supporting Variantsnssv1173200
SamplesHGDP00846
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)nsv547876
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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