A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821510



Internal ID16410332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:26067461..26141672hg38UCSC Ensembl
Innerchr20:26048097..26122308hg19UCSC Ensembl
Innerchr20:25996097..26070308hg18UCSC Ensembl
Cytoband20p11.1
Allele length
AssemblyAllele length
hg3874212
hg1974212
hg1874212
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1420091
SamplesNA10851
Known GenesFAM182A, NCOR1P1
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)nsv821510
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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