A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161560



Internal ID18956548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:151364223..151425402hg38UCSC Ensembl
Outerchr1:151359541..151436260hg38UCSC Ensembl
Innerchr1:151336699..151397878hg19UCSC Ensembl
Outerchr1:151332017..151408736hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3876720
hg1976720
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4029819, nssv4029818, nssv4029820, nssv4029817
Samples
Known GenesPOGZ, PSMB4, SELENBP1
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)nsv1161560
Frequency
Sample Size369
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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