A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4030240



Internal ID19294103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133420636..133489528hg38UCSC Ensembl
Outerchr10:133419150..133491139hg38UCSC Ensembl
Innerchr10:135234140..135303032hg19UCSC Ensembl
Outerchr10:135232654..135304643hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3871990
hg1971990
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1159787
Supporting Variants
Samples
Known GenesMTG1, SCART1, SPRN
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)nssv4030240
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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