A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4029309



Internal ID19293172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:121360818..121363980hg38UCSC Ensembl
Outerchr4:121353499..121369976hg38UCSC Ensembl
Innerchr4:122281973..122285135hg19UCSC Ensembl
Outerchr4:122274654..122291131hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg3816478
hg1916478
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161141
Supporting Variants
Samples
Known GenesQRFPR
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)nssv4029309
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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