A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1159844



Internal ID19302498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18927525..18949201hg38UCSC Ensembl
Outerchr11:18919323..18949628hg38UCSC Ensembl
Innerchr11:18949072..18970748hg19UCSC Ensembl
Outerchr11:18940870..18971175hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3830306
hg1930306
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv44n111
Supporting Variantsnssv4030493
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)nsv1159844
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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