A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161830



Internal ID19303146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:9261737..9290584hg38UCSC Ensembl
Outerchr9:9252297..9291209hg38UCSC Ensembl
Innerchr9:9261737..9290584hg19UCSC Ensembl
Outerchr9:9252297..9291209hg19UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg3838913
hg1938913
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4037229
Samples
Known GenesPTPRD
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)nsv1161830
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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