A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571092



Internal ID16011815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:985653..1148938hg38UCSC Ensembl
Innerchr16:1035653..1198938hg19UCSC Ensembl
Innerchr16:975654..1138939hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38163286
hg19163286
hg18163286
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv851934
Samples
Known GenesC1QTNF8, SOX8, SSTR5, SSTR5-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571092
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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