A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1159834



Internal ID19303839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18917623..18940816hg38UCSC Ensembl
Outerchr11:18916085..18949158hg38UCSC Ensembl
Innerchr11:18939170..18962363hg19UCSC Ensembl
Outerchr11:18937632..18970705hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3833074
hg1933074
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv44n111
Supporting Variantsnssv4030447, nssv4030448
Samples
Known GenesMRGPRX1
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)nsv1159834
Frequency
Sample Size369
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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