A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4030479



Internal ID19294342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18927525..18940469hg38UCSC Ensembl
Outerchr11:18919323..18940586hg38UCSC Ensembl
Innerchr11:18949072..18962016hg19UCSC Ensembl
Outerchr11:18940870..18962133hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3821264
hg1921264
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1159840
Supporting Variants
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)nssv4030479
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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