A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4037114



Internal ID18942527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143549910..143616987hg38UCSC Ensembl
Outerchr8:143542268..143622987hg38UCSC Ensembl
Innerchr8:144632080..144699157hg19UCSC Ensembl
Outerchr8:144624438..144705157hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3880720
hg1980720
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161810
Supporting Variants
Samples
Known GenesEEF1D, GSDMD, MROH6, NAPRT1, PYCRL, TIGD5, TSTA3
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)nssv4037114
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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