A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4038115



Internal ID19300254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:26936975..26946905hg38UCSC Ensembl
Outerchr10:26934974..26951503hg38UCSC Ensembl
Innerchr10:27225904..27235834hg19UCSC Ensembl
Outerchr10:27223903..27240432hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg3816530
hg1916530
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161935
Supporting Variants
Samples
Known GenesLINC00202-1
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)nssv4038115
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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