A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv820369



Internal ID16409191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68503042..68687820hg38UCSC Ensembl
Innerchr4:69368760..69553538hg19UCSC Ensembl
Innerchr4:69051355..69236133hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38184779
hg19184779
hg18184779
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1420422
SamplesNA10851
Known GenesUGT2B15, UGT2B17
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)nsv820369
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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