A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4028893



Internal ID19292756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:48977617..48991360hg38UCSC Ensembl
Outerchr4:48976224..48998069hg38UCSC Ensembl
Innerchr4:48979634..48993377hg19UCSC Ensembl
Outerchr4:48978241..49000086hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3821846
hg1921846
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161082
Supporting Variants
Samples
Known GenesCWH43
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)nssv4028893
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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