A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv820390



Internal ID16062526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:20125506..20128380hg38UCSC Ensembl
InnerchrX:20143624..20146498hg19UCSC Ensembl
InnerchrX:20053545..20056419hg18UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg382875
hg192875
hg182875
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1420190
SamplesNA10851
Known GenesEIF1AX
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)nsv820390
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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