A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1420350



Internal ID16061624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:170231064..170233864hg38UCSC Ensembl
Innerchr3:169948852..169951652hg19UCSC Ensembl
Innerchr3:171431546..171434346hg18UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg382801
hg192801
hg182801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv821366
Supporting Variants
SamplesNA10851
Known GenesPRKCI
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)nssv1420350
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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