A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821543



Internal ID16063679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:30188515..30215606hg38UCSC Ensembl
Innerchr16:30199836..30226927hg19UCSC Ensembl
Innerchr16:30107337..30134428hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3827092
hg1927092
hg1827092
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421176
SamplesNA10851
Known GenesBOLA2, BOLA2B, CORO1A, LOC388242, LOC606724, LOC613038, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SULT1A3, SULT1A4
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)nsv821543
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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