A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv820800



Internal ID16062936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:102350123..102350652hg38UCSC Ensembl
Innerchr2:102966583..102967112hg19UCSC Ensembl
Innerchr2:102333015..102333544hg18UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38530
hg19530
hg18530
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1420242
SamplesNA10851
Known GenesIL1RL1
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)nsv820800
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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