A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161962



Internal ID19303228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:57130750..57180217hg38UCSC Ensembl
Outerchr10:57123494..57181801hg38UCSC Ensembl
Innerchr10:58890510..58939977hg19UCSC Ensembl
Outerchr10:58883254..58941561hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3858308
hg1958308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv33n111
Supporting Variantsnssv4038185
Samples
Known Genes
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)nsv1161962
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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