A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161158



Internal ID19303148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143703174..143720238hg38UCSC Ensembl
Outerchr4:143694339..143721339hg38UCSC Ensembl
Innerchr4:144624327..144641391hg19UCSC Ensembl
Outerchr4:144615492..144642492hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3827001
hg1927001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4029383
Samples
Known GenesFREM3
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)nsv1161158
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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