A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821520



Internal ID16063656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:93822731..93826028hg38UCSC Ensembl
Innerchr1:94288287..94291584hg19UCSC Ensembl
Innerchr1:94060875..94064172hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg383298
hg193298
hg183298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1420447
SamplesNA10851
Known GenesBCAR3
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)nsv821520
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer