A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1419889



Internal ID16407849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:74328208..74373921hg38UCSC Ensembl
Innerchr16:74362106..74407819hg19UCSC Ensembl
Innerchr16:72919607..72965320hg18UCSC Ensembl
Cytoband16q22.3
Allele length
AssemblyAllele length
hg3845714
hg1945714
hg1845714
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv821370
Supporting Variants
SamplesNA10851
Known GenesLOC283922
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)nssv1419889
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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