A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4037022



Internal ID18942435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:101081159..101089391hg38UCSC Ensembl
Outerchr8:101073926..101090712hg38UCSC Ensembl
Innerchr8:102093387..102101619hg19UCSC Ensembl
Outerchr8:102086154..102102940hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3816787
hg1916787
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161784
Supporting Variants
Samples
Known GenesFLJ42969
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)nssv4037022
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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