A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1159872



Internal ID19304164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:199808092..199825822hg38UCSC Ensembl
Outerchr1:199803351..199828508hg38UCSC Ensembl
Innerchr1:199777220..199794950hg19UCSC Ensembl
Outerchr1:199772479..199797636hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3825158
hg1925158
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4026045
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)nsv1159872
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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