A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161903



Internal ID18957812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114349312..114384215hg38UCSC Ensembl
Outerchr9:114340988..114388671hg38UCSC Ensembl
Innerchr9:117111592..117146495hg19UCSC Ensembl
Outerchr9:117103268..117150951hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3847684
hg1947684
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4037946
Samples
Known GenesAKNA
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)nsv1161903
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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