A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1420277



Internal ID16061551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:178431343..178432377hg38UCSC Ensembl
Innerchr2:179296070..179297104hg19UCSC Ensembl
Innerchr2:179004316..179005350hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg381035
hg191035
hg181035
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv821160
Supporting Variants
SamplesNA10851
Known GenesMIR548N, PRKRA
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)nssv1420277
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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