A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821002



Internal ID16409824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:82124011..82135643hg38UCSC Ensembl
Innerchr5:81419830..81431462hg19UCSC Ensembl
Innerchr5:81455586..81467218hg18UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg3811633
hg1911633
hg1811633
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1420528
SamplesNA10851
Known GenesATG10
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)nsv821002
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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