A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821581



Internal ID16063717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46302972..46508943hg38UCSC Ensembl
Innerchr17:44380338..44586309hg19UCSC Ensembl
Innerchr17:41736115..41941625hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38205972
hg19205972
hg18205511
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1419943
SamplesNA10851
Known GenesARL17A, ARL17B, LRRC37A, NSFP1
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)nsv821581
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