A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161916



Internal ID18955847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:136478000..136541024hg38UCSC Ensembl
Outerchr9:136473005..136561387hg38UCSC Ensembl
Innerchr9:139372452..139435476hg19UCSC Ensembl
Outerchr9:139367457..139455839hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3888383
hg1988383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4038048
Samples
Known GenesC9orf163, MIR4673, MIR4674, NOTCH1, SEC16A
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)nsv1161916
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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