A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160721



Internal ID19303377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15533086..15925481hg38UCSC Ensembl
Outerchr22:15500909..15925481hg38UCSC Ensembl
Innerchr22:16052528..16444877hg19UCSC Ensembl
Outerchr22:16052528..16477054hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38424573
hg19424527
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv168n111
Supporting Variantsnssv4040575
Samples
Known GenesBMS1P17, BMS1P18, OR11H1, POTEH
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)nsv1160721
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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