A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1420313



Internal ID16408273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:18904513..18911802hg38UCSC Ensembl
Innerchr3:18946005..18953294hg19UCSC Ensembl
Innerchr3:18921009..18928298hg18UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg387290
hg197290
hg187290
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv821401
Supporting Variants
SamplesNA10851
Known Genes
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)nssv1420313
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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