A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161125



Internal ID18957351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:107937433..107939822hg38UCSC Ensembl
Outerchr4:107930839..107944992hg38UCSC Ensembl
Innerchr4:108858589..108860978hg19UCSC Ensembl
Outerchr4:108851995..108866148hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg3814154
hg1914154
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4029178
Samples
Known GenesCYP2U1
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)nsv1161125
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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