A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161847



Internal ID18955921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:21008378..21089455hg38UCSC Ensembl
Outerchr9:21006309..21091241hg38UCSC Ensembl
Innerchr9:21008377..21089454hg19UCSC Ensembl
Outerchr9:21006308..21091240hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg3884933
hg1984933
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4037363
Samples
Known GenesIFNB1, PTPLAD2
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)nsv1161847
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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