A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821150



Internal ID16063286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14683544..14771234hg38UCSC Ensembl
Innerchr16:14777401..14865091hg19UCSC Ensembl
Innerchr16:14684902..14772592hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3887691
hg1987691
hg1887691
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421162
SamplesNA10851
Known GenesNPIPA2, NPIPA3, PLA2G10
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)nsv821150
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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