A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4036706



Internal ID18942119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:15554100..15576174hg38UCSC Ensembl
Outerchr8:15553858..15583077hg38UCSC Ensembl
Innerchr8:15411609..15433683hg19UCSC Ensembl
Outerchr8:15411367..15440586hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3829220
hg1929220
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161737
Supporting Variants
Samples
Known GenesTUSC3
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)nssv4036706
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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