A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1420972



Internal ID16062246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:45001..85201hg38UCSC Ensembl
Innerchr12:147109..194367hg19UCSC Ensembl
Innerchr12:17370..64628hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3840201
hg1947259
hg1847259
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv821041
Supporting Variants
SamplesNA10851
Known GenesFAM138D, IQSEC3
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)nssv1420972
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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