A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571170



Internal ID16011893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1752231..1791032hg38UCSC Ensembl
Innerchr16:1802232..1841033hg19UCSC Ensembl
Innerchr16:1742233..1781034hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3838802
hg1938802
hg1838802
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1148894
SamplesHGDP00518
Known GenesEME2, IGFALS, MAPK8IP3, MRPS34, NME3, NUBP2, SPSB3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571170
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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