A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161981



Internal ID18957735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:79313758..79380066hg38UCSC Ensembl
Outerchr10:79309656..79385886hg38UCSC Ensembl
Innerchr10:81073515..81139822hg19UCSC Ensembl
Outerchr10:81069413..81145642hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg3876231
hg1976230
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4038350
Samples
Known GenesPPIF, ZCCHC24, ZMIZ1
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)nsv1161981
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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