A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161883



Internal ID19302885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:92755182..92769714hg38UCSC Ensembl
Outerchr9:92752551..92771304hg38UCSC Ensembl
Innerchr9:95517464..95531996hg19UCSC Ensembl
Outerchr9:95514833..95533586hg19UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg3818754
hg1918754
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4037827
Samples
Known GenesBICD2
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)nsv1161883
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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