A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4038079



Internal ID18953532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:825098..1029837hg38UCSC Ensembl
Outerchr10:823011..1033401hg38UCSC Ensembl
Innerchr10:871038..1075777hg19UCSC Ensembl
Outerchr10:868951..1079341hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38210391
hg19210391
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161921
Supporting Variants
Samples
Known GenesGTPBP4, IDI2, IDI2-AS1, LARP4B
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)nssv4038079
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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