A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4031708



Internal ID19295571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:65418738..65583257hg38UCSC Ensembl
Outerchr13:65413741..65586779hg38UCSC Ensembl
Innerchr13:65992870..66157389hg19UCSC Ensembl
Outerchr13:65987873..66160911hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg38173039
hg19173039
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160133
Supporting Variants
Samples
Known Genes
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)nssv4031708
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