A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4036775



Internal ID18942188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:25845054..25849698hg38UCSC Ensembl
Outerchr8:25843111..25850751hg38UCSC Ensembl
Innerchr8:25702570..25707214hg19UCSC Ensembl
Outerchr8:25700627..25708267hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg387641
hg197641
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161746
Supporting Variants
Samples
Known GenesEBF2
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)nssv4036775
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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