A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4040306



Internal ID18952442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:63648203..63731990hg38UCSC Ensembl
Outerchr20:63639552..63744287hg38UCSC Ensembl
Innerchr20:62279556..62363342hg19UCSC Ensembl
Outerchr20:62270905..62375640hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38104736
hg19104736
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160690
Supporting Variants
Samples
Known GenesARFRP1, LIME1, RTEL1, RTEL1-TNFRSF6B, SLC2A4RG, STMN3, TNFRSF6B, ZBTB46, ZGPAT
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)nssv4040306
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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