A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv820817



Internal ID16062953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46365685..46600362hg38UCSC Ensembl
Innerchr10:46949255..47185089hg19UCSC Ensembl
Innerchr10:46369261..46605095hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38234678
hg19235835
hg18235835
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1420868
SamplesNA10851
Known GenesANXA8, FAM25C, FAM25G, GPRIN2, HNRNPA1P33, LINC00842, LOC100996758, NPY4R, SYT15
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)nsv820817
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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