A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160671



Internal ID18957550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:667621..673497hg38UCSC Ensembl
Outerchr20:665086..674628hg38UCSC Ensembl
Innerchr20:648265..654141hg19UCSC Ensembl
Outerchr20:645730..655272hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg389543
hg199543
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4040178
Samples
Known GenesSCRT2
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)nsv1160671
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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