A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821320



Internal ID16410142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:49278283..49336858hg38UCSC Ensembl
Innerchr4:49280300..49338875hg19UCSC Ensembl
Innerchr4:48975057..49033632hg18UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3858576
hg1958576
hg1858576
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1420411
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)nsv821320
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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