A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821123



Internal ID16409945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:131660253..131723140hg38UCSC Ensembl
Innerchr4:132581408..132644295hg19UCSC Ensembl
Innerchr4:132800858..132863745hg18UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3862888
hg1962888
hg1862888
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1420442
SamplesNA10851
Known Genes
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)nsv821123
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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