A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571730



Internal ID16359139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28402979..28414518hg38UCSC Ensembl
Innerchr16:28414300..28425839hg19UCSC Ensembl
Innerchr16:28321801..28333340hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3811540
hg1911540
hg1811540
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4967n54
Supporting Variantsnssv855258
Samples
Known GenesEIF3C, EIF3CL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571730
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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