A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4028519



Internal ID19292382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:5745425..5747535hg38UCSC Ensembl
Outerchr4:5744578..5750099hg38UCSC Ensembl
Innerchr4:5747152..5749262hg19UCSC Ensembl
Outerchr4:5746305..5751826hg19UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg385522
hg195522
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161030
Supporting Variants
Samples
Known GenesEVC
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)nssv4028519
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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