A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821333



Internal ID16410155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13094253..13152244hg38UCSC Ensembl
Innerchr1:13161724..13219695hg19UCSC Ensembl
Innerchr1:13084311..13142282hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3857992
hg1957972
hg1857972
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1420214
SamplesNA10851
Known GenesHNRNPCP5
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)nsv821333
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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