A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161914



Internal ID18956246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:133074203..133081235hg38UCSC Ensembl
Outerchr9:133068050..133090275hg38UCSC Ensembl
Innerchr9:135949590..135956622hg19UCSC Ensembl
Outerchr9:135943437..135965662hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg3822226
hg1922226
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4037984
Samples
Known GenesCEL, CELP
MethodSNP array
Analysis1) We applied common software Birdsuite to detect genome-wide CNVs; 2) we used our algorithm WinXPCNVer which is based on probe intensity to identify Tibetan specific CNV; 3) we further genotyped the discovered Tibetan specific CNV by K-means and manual observation.
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceLou_et_al_2015
Pubmed ID26073780
Accession Number(s)nsv1161914
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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