A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161974



Internal ID18956492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:68852888..68862365hg38UCSC Ensembl
Outerchr10:68851487..68866574hg38UCSC Ensembl
Innerchr10:70612644..70622121hg19UCSC Ensembl
Outerchr10:70611243..70626330hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg3815088
hg1915088
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4038279, nssv4038280
Samples
Known GenesSTOX1
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)nsv1161974
Frequency
Sample Size369
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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