A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161927



Internal ID19303417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:6936155..6939759hg38UCSC Ensembl
Outerchr10:6933714..6945980hg38UCSC Ensembl
Innerchr10:6978117..6981721hg19UCSC Ensembl
Outerchr10:6975676..6987942hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3812267
hg1912267
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4038085
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)nsv1161927
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