A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv820569



Internal ID16409391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28597073..28615578hg38UCSC Ensembl
Innerchr16:28608394..28626899hg19UCSC Ensembl
Innerchr16:28515895..28534400hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3818506
hg1918506
hg1818506
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421173
SamplesNA10851
Known GenesSULT1A1
MethodSequencing
AnalysisRead-depth of sequencing coverage was calculated for each base of human reference genome assembly build 36.3 (hg18) by our own script. Influence of GC contents on the read-depth of sequencing coverage was adjusted using modified method suggested by Yoon et al. We sought the relationship between GC contents and read-depth of coverage in 100bp windows. Then the single base RD (Read depth) was adjusted by the relationship.
PlatformIllumina IIx
Comments
ReferenceJu_et_al_2010
Pubmed ID20802225
Accession Number(s)nsv820569
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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