A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv820466



Internal ID16409288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:83022247..83023412hg38UCSC Ensembl
Innerchr17:80980123..80981288hg19UCSC Ensembl
Innerchr17:78573412..78574577hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381166
hg191166
hg181166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1419967
SamplesNA10851
Known GenesB3GNTL1
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)nsv820466
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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