A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821579



Internal ID16410401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8214782..8230370hg38UCSC Ensembl
Innerchr8:8072304..8087892hg19UCSC Ensembl
Innerchr8:8109714..8125302hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3815589
hg1915589
hg1815589
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1420748
SamplesNA10851
Known GenesFAM86B3P
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)nsv821579
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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