A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571458



Internal ID16012181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:11831151..11993425hg38UCSC Ensembl
Innerchr16:11925008..12087282hg19UCSC Ensembl
Innerchr16:11832509..11994783hg18UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg38162275
hg19162275
hg18162275
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv852531
Samples
Known GenesGSPT1, RSL1D1, SNX29, TNFRSF17
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571458
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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