A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1159858



Internal ID19302810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:197549659..197684034hg38UCSC Ensembl
Outerchr1:197545495..197685928hg38UCSC Ensembl
Innerchr1:197518789..197653164hg19UCSC Ensembl
Outerchr1:197514625..197655058hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38140434
hg19140434
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4026037
Samples
Known GenesDENND1B
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)nsv1159858
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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